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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 2, position 96254993, gene TMEM127 (transmembrane protein 127): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Pheochromocytoma'] | CCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCTCCCCATAAAACCAGGGCACA... | CCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCTCCCCATAAAACCAGGGCACA... | pathogenic | 41,127 |
Variant chromosome 2, position 96265157, gene TMEM127 (transmembrane protein 127): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TGGTGTGATCTTGGGCTCACTGCAACTCCTCTACTTCCTGGGTTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGAT... | TGGTGTGATCTTGGGCTCACTGCAACTCCTCTACTTCCTGGGTTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGAT... | pathogenic | 41,139 |
Variant at chromosome 2, position 96265179, gene TMEM127 (transmembrane protein 127): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | CAACTCCTCTACTTCCTGGGTTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGC... | CAACTCCTCTACTTCCTGGGTTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGC... | pathogenic | 41,145 |
Evaluate if the mutation on chromosome 2 at position 96265199 in TMEM127 (transmembrane protein 127) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTC... | TTCAAGCGATTCGCCTGCCTCAGCCTTCAGAGTATCTGGGACTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTC... | pathogenic | 41,149 |
Does the genetic variant at chromosome 2, position 96265261, impacting gene TMEM127, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Pheochromocytoma', 'TMEM127-related_disorder'] | CCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAA... | CCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAA... | pathogenic | 41,161 |
Mutation at chromosome 2, position 96265265, within TMEM127: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_pheochromocytoma-paraganglioma', 'Pheochromocytoma'] | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTT... | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTTTCACCATGTTAGCCAAGCTGGTCTCCAACTCTTGACCTCAGGCAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTT... | pathogenic | 41,163 |
The genetic variant at chromosome 2, position 96265369, affecting gene TMEM127: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_pheochromocytoma-paraganglioma'] | AGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATA... | AGTGCTGGGATCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATA... | pathogenic | 41,185 |
Clinical significance of chromosome 2, position 96761612, gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | CTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAGCAACAACTACTACC... | CTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAGCAACAACTACTACC... | pathogenic | 41,256 |
Chromosome 2, position 97733221, gene ZAP70 (zeta chain of T cell receptor associated protein kinase 70): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGGAGGTGTTTTCACTTCTCACAGTCCCTGGAGACCATCACCTCCAGGCCAGCCTGCCACCTGCCTCTGACTTCCACAGCTCTGAGACCCCCAGGGCCAATAGCCCTCCCTCCTCACTGGAAAGCTGCACTTAACAGGAGCTTGTGCCAGTGACTCAAAATAGAAATGTTTTGTGGGAGATGTTGACTGGTGTCACTGCGGGGTTTCACGTGACGGCGCTGCATCTGCTGTCCCAGCCTACTGTCTCTGTGGGATGTTTGTTTCCTAATTTGTGGTGGGTTCTCTTCCTTGCCCTTTTGTGTGCCCTCATTGCCCCCGCC... | AGGAGGTGTTTTCACTTCTCACAGTCCCTGGAGACCATCACCTCCAGGCCAGCCTGCCACCTGCCTCTGACTTCCACAGCTCTGAGACCCCCAGGGCCAATAGCCCTCCCTCCTCACTGGAAAGCTGCACTTAACAGGAGCTTGTGCCAGTGACTCAAAATAGAAATGTTTTGTGGGAGATGTTGACTGGTGTCACTGCGGGGTTTCACGTGACGGCGCTGCATCTGCTGTCCCAGCCTACTGTCTCTGTGGGATGTTTGTTTCCTAATTTGTGGTGGGTTCTCTTCCTTGCCCTTTTGTGTGCCCTCATTGCCCCCGCC... | benign | 41,290 |
Does the chromosome 2 mutation at position 98377747 within gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | AGCAATGTCTCTAGTGGCATGCCACAGGGCTCAGTCCTCAGCCATCCTATTAATTTCCTTTTCATCTGTGCCATATATGAAAATACAGGGCAGCTTCATGGAGTGGATGACAGCAAGTTTTGAAATGGGATGGAATAACATTGGAATCTCGGCTGTACCACCTGGCTATGGGATCTCGGTGAAGTTGCTTAACCTTTCTGAACTCCCATTTCCTCTCTTACAGGGTTGTTGTGTGGATGAAATGATAAAATGTATGTGGCTGGCATACAGAAAAGAGCCACTGAATGGCATGTGGTTTGTGTATTTTGTTTGTGAGTAGG... | AGCAATGTCTCTAGTGGCATGCCACAGGGCTCAGTCCTCAGCCATCCTATTAATTTCCTTTTCATCTGTGCCATATATGAAAATACAGGGCAGCTTCATGGAGTGGATGACAGCAAGTTTTGAAATGGGATGGAATAACATTGGAATCTCGGCTGTACCACCTGGCTATGGGATCTCGGTGAAGTTGCTTAACCTTTCTGAACTCCCATTTCCTCTCTTACAGGGTTGTTGTGTGGATGAAATGATAAAATGTATGTGGCTGGCATACAGAAAAGAGCCACTGAATGGCATGTGGTTTGTGTATTTTGTTTGTGAGTAGG... | pathogenic | 41,343 |
Chromosome 2, position 98380291, gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achromatopsia_2', 'Retinal_dystrophy'] | ATTTGTTTGCAAGATTAGTGAGACTCCAAGCTCTGCTTCCCCCTGATGACATCCGTACTCCAGCTTCAACAGCTGCTCCATCCTGAGGAAGTCATTTCACCTTTTCAAATCTCATCTAGAAATGCATCTAACAGTGCCTACCCCACAGGTGGCTTGAAAGCTGCTTCAGAGCCAAGCACCGACTCACGGCAGGTGCTCAACAAACACCAGGCTCATTATTTCCTTCCACCACGTGGTTTTTTCCAATGCCAGAGTCTTACATAGTCACATGTTCTAAACTTTTTACTTAAGATTATCACAAAAGAAATTCACATATCTAT... | ATTTGTTTGCAAGATTAGTGAGACTCCAAGCTCTGCTTCCCCCTGATGACATCCGTACTCCAGCTTCAACAGCTGCTCCATCCTGAGGAAGTCATTTCACCTTTTCAAATCTCATCTAGAAATGCATCTAACAGTGCCTACCCCACAGGTGGCTTGAAAGCTGCTTCAGAGCCAAGCACCGACTCACGGCAGGTGCTCAACAAACACCAGGCTCATTATTTCCTTCCACCACGTGGTTTTTTCCAATGCCAGAGTCTTACATAGTCACATGTTCTAAACTTTTTACTTAAGATTATCACAAAAGAAATTCACATATCTAT... | pathogenic | 41,349 |
Mutation found at chromosome 2 position 98389705, gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Achromatopsia'] | AAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCC... | AAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCC... | pathogenic | 41,362 |
Variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3), chromosome 2, position 98395947—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Achromatopsia_2'] | TGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAA... | TGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAA... | pathogenic | 41,373 |
Evaluate this variant at chromosome 2, position 98396101, gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Achromatopsia', 'Achromatopsia_2', 'Retinal_dystrophy'] | CTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCA... | CTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCA... | pathogenic | 41,382 |
Clinically, how would you classify the variant at chromosome 2, position 98396280, gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | CATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCC... | CATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCC... | pathogenic | 41,390 |
Variant on chromosome 2, at position 98396398, affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Achromatopsia_2'] | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... | pathogenic | 41,395 |
Is the genetic change at chromosome 2, position 98396612, within gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Achromatopsia_2'] | TATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTT... | TATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTT... | pathogenic | 41,401 |
Considering the variant on chromosome 2, location 98396685, involving gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Achromatopsia_2'] | CTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACC... | CTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACC... | pathogenic | 41,403 |
A genetic alteration at chromosome 2, position 98396918, in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Achromatopsia', 'Retinal_dystrophy'] | AGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGA... | AGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGA... | pathogenic | 41,416 |
Evaluate the clinical significance of the mutation at chromosome 2, position 98396980 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | ATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACC... | ATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACC... | pathogenic | 41,419 |
Clinical significance of chromosome 2, position 104855630, gene POU3F3 (POU class 3 homeobox 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGGTACATCCGTGCCGCGCGCTTTACAAATCTCTGGCGGGGCGGGGGTAAGGGGGTGAGCAACCCGACGCGTACTAGGTGGGGTGGGCAGGTTGCTATTTTTCATGTTTCCCCCTTCGTTTTCCTTCTGATTCTCTTCCCCCCTCTCGTCCCTCCCTCCCTTTTATCTCCCCTTTCTTCCCCCCGCCCAGACCTATTGCGAACGCCCAGAGCCGCCGAGGGAACGCCAACGTCTGGGCCGGACACTAAGAGTTAAGATGTGGCGGAGGGGGCGGCGGGGGAGGGGCGGGGAGGGGAAAGTGGTGAGGGGGAGGGAGGCT... | ATGGTACATCCGTGCCGCGCGCTTTACAAATCTCTGGCGGGGCGGGGGTAAGGGGGTGAGCAACCCGACGCGTACTAGGTGGGGTGGGCAGGTTGCTATTTTTCATGTTTCCCCCTTCGTTTTCCTTCTGATTCTCTTCCCCCCTCTCGTCCCTCCCTCCCTTTTATCTCCCCTTTCTTCCCCCCGCCCAGACCTATTGCGAACGCCCAGAGCCGCCGAGGGAACGCCAACGTCTGGGCCGGACACTAAGAGTTAAGATGTGGCGGAGGGGGCGGCGGGGGAGGGGCGGGGAGGGGAAAGTGGTGAGGGGGAGGGAGGCT... | benign | 41,555 |
For chromosome 2, position 108906291, gene RANBP2: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATTGAGACCACAATAAGATATCATAACACACTTCTCAGAATAGCTAAAACAAAACATAGTAACACCACCAAATGCTGGCAAGCATATGGAGAAACTAGACCGTTCCCACACTGCTAGTAGGAATGTAAAATGGTACAATAACTTTAGAAAACGGTTTGGCAGTTTTTTAAAATAATCAACCATGCAACTATCATACAACCCAACAAATGTACTCCTGGGTCTTTATCCCAGATAAATCACGACTGATGTCCACACAAAAACCTATACACAAATATTTATAGCACCTTTATTCATAATAGCCGTTAAGTGGAAATAACCCT... | ATTGAGACCACAATAAGATATCATAACACACTTCTCAGAATAGCTAAAACAAAACATAGTAACACCACCAAATGCTGGCAAGCATATGGAGAAACTAGACCGTTCCCACACTGCTAGTAGGAATGTAAAATGGTACAATAACTTTAGAAAACGGTTTGGCAGTTTTTTAAAATAATCAACCATGCAACTATCATACAACCCAACAAATGTACTCCTGGGTCTTTATCCCAGATAAATCACGACTGATGTCCACACAAAAACCTATACACAAATATTTATAGCACCTTTATTCATAATAGCCGTTAAGTGGAAATAACCCT... | benign | 41,758 |
Regarding the variant at chromosome 2 and position 108910783, affecting gene RANBP2: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ectodermal_dysplasia_10B,_hypohidrotic/hair/tooth_type,_autosomal_recessive'] | TTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAA... | TTCTTTTTTAGAGGCATCCTGCTTGCTTCCTGTGGTTTGGCTGAAGACCTTTTTTTCTTAAAAAAAGGATTATATTTGTTAGTAACTAGGTTACAGCAGTGAAGCCCATATGCAAACACAACCCTAGAGACAGGGTAATACAAAGACAATGAGAACCATCATGAAGCCCCAGTGGGACCCACTTCCTCATCAGGCTTCAGGGCCTCACAAGGAGGTGGTAGGACCCATCCCTGTCCCCACTCGAGAGAAGGTGAGGTGGAGCAGGTGAGGTGGCACCCCAGGTCCTGTCTCTGAGACCTAAGGACAAACAGCAGGGACAA... | pathogenic | 41,771 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 110123918, gene NPHP1 (nephrocystin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | AGGTGGAGCTTAGAAATTAAAAGTCATTTCTACAGAGAAATGACTTTCACAGTGAGGAGTGATATGGGCTCATGTTCTTTCAAAAACAGGACTGCAGGGGACTAAGAGTAAGAGGAGGCAACTCAGTAACAGAGTAGCAAAAAGTCTCTGTGCACACTTACCACCTCCATTTGAAAGGCAAAGCCCTCTCCCTGGGAGCAGGAGCTGGGGAGGGCCGCGGTGCTAGAGAAGTGGGGGCACCACTTTGTAAGTGTGCCCAGGCAGCTGATGGGCAAAAGGAAGGTGTTTGCCACACTCAGCCTTGTATTGTGTGGTTGAGG... | AGGTGGAGCTTAGAAATTAAAAGTCATTTCTACAGAGAAATGACTTTCACAGTGAGGAGTGATATGGGCTCATGTTCTTTCAAAAACAGGACTGCAGGGGACTAAGAGTAAGAGGAGGCAACTCAGTAACAGAGTAGCAAAAAGTCTCTGTGCACACTTACCACCTCCATTTGAAAGGCAAAGCCCTCTCCCTGGGAGCAGGAGCTGGGGAGGGCCGCGGTGCTAGAGAAGTGGGGGCACCACTTTGTAAGTGTGCCCAGGCAGCTGATGGGCAAAAGGAAGGTGTTTGCCACACTCAGCCTTGTATTGTGTGGTTGAGG... | pathogenic | 41,792 |
Gene NPHP1 (nephrocystin 1) variant at chromosome position 110131769 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Joubert_syndrome_and_related_disorders', 'Joubert_syndrome_with_renal_defect', 'NPHP1-related_disorder', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | CTTGTGTCTGGAGCCAGCAGACAGTGGTAGGTGAAACTGGAAGAATTAGGAATTGAGGATTCTGGCCATATGACCAAACACAGTGAGGGAGAATATTGACATTTCACAATAGATAACAGCACATGAAAAATCTGTGCAAAGAAGCACATCAGGAAAGACATGTCTTAGTCTGTTTGCGCTGCTGTAGTGGAATACCTGAGACTGGGTAACATAAACAAAATAAAATTATTTCTCCAAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTAATGGCATTTGGTGTCTGGTAAGGGCCTTCTTACAACATCCTCCAGAGGGG... | CTTGTGTCTGGAGCCAGCAGACAGTGGTAGGTGAAACTGGAAGAATTAGGAATTGAGGATTCTGGCCATATGACCAAACACAGTGAGGGAGAATATTGACATTTCACAATAGATAACAGCACATGAAAAATCTGTGCAAAGAAGCACATCAGGAAAGACATGTCTTAGTCTGTTTGCGCTGCTGTAGTGGAATACCTGAGACTGGGTAACATAAACAAAATAAAATTATTTCTCCAAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTAATGGCATTTGGTGTCTGGTAAGGGCCTTCTTACAACATCCTCCAGAGGGG... | pathogenic | 41,800 |
A genetic variant on chromosome 2, position 110131794, affects the gene NPHP1 (nephrocystin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGTAGGTGAAACTGGAAGAATTAGGAATTGAGGATTCTGGCCATATGACCAAACACAGTGAGGGAGAATATTGACATTTCACAATAGATAACAGCACATGAAAAATCTGTGCAAAGAAGCACATCAGGAAAGACATGTCTTAGTCTGTTTGCGCTGCTGTAGTGGAATACCTGAGACTGGGTAACATAAACAAAATAAAATTATTTCTCCAAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTAATGGCATTTGGTGTCTGGTAAGGGCCTTCTTACAACATCCTCCAGAGGGGAGGAACACTGTGCCATCACGTGGCT... | GGTAGGTGAAACTGGAAGAATTAGGAATTGAGGATTCTGGCCATATGACCAAACACAGTGAGGGAGAATATTGACATTTCACAATAGATAACAGCACATGAAAAATCTGTGCAAAGAAGCACATCAGGAAAGACATGTCTTAGTCTGTTTGCGCTGCTGTAGTGGAATACCTGAGACTGGGTAACATAAACAAAATAAAATTATTTCTCCAAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTAATGGCATTTGGTGTCTGGTAAGGGCCTTCTTACAACATCCTCCAGAGGGGAGGAACACTGTGCCATCACGTGGCT... | benign | 41,801 |
Clinically, how would you classify the variant at chromosome 2, position 110144542, gene NPHP1 (nephrocystin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | AGGTGTGCATCACCATACCCAGCTAATTTTTTTTTTTTGGTAGAGATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATTCTACCACCTCCACCTCCCAAAGTGCTGCAATTATAGGTGTGAGCCACCATGCCCAGCCTACAACTAGTCTACTGAACATCAGAGCTTAGACAGGCCTACCTTAAACATGCTCATAACACATTAACCTACAGTTGGGCAAAATCATCTAATACAAAGCCTATTTTGTAATAAAGTATAAATATCTCATGTAATTCATTGAATCTGTACTGAAGTATAGTGT... | AGGTGTGCATCACCATACCCAGCTAATTTTTTTTTTTTGGTAGAGATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATTCTACCACCTCCACCTCCCAAAGTGCTGCAATTATAGGTGTGAGCCACCATGCCCAGCCTACAACTAGTCTACTGAACATCAGAGCTTAGACAGGCCTACCTTAAACATGCTCATAACACATTAACCTACAGTTGGGCAAAATCATCTAATACAAAGCCTATTTTGTAATAAAGTATAAATATCTCATGTAATTCATTGAATCTGTACTGAAGTATAGTGT... | pathogenic | 41,806 |
Is the chromosome 2, position 110150209 variant in NPHP1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | AGGTGTTTGGGTCATGAGGGCAGATCCCTCATGGTTTGGTACTGTCCTCACCACAGAGAGTTCGTTCTCAGGAGATCAGTTTTTTTAAAAGTGTGTGGCACCTCCTTCCTCCTTCTTGCTCCTGCACTGTCACGTGAGATGCCTGCTCTCCCTTCACCTTCTGCCATGACTGGAAGCTTCCTGAGGCCTCCCTAGAAGCTGAGCAGATGCCTGTGCCATGCTTCCTGTACAGTCTGCAGAACCAGGGGCCAATTAAACCTCTTTTCTTTATAAATTAACCAGCCTCATGCATTTCTTTATAGCAATGCAAGAACGGCCTC... | AGGTGTTTGGGTCATGAGGGCAGATCCCTCATGGTTTGGTACTGTCCTCACCACAGAGAGTTCGTTCTCAGGAGATCAGTTTTTTTAAAAGTGTGTGGCACCTCCTTCCTCCTTCTTGCTCCTGCACTGTCACGTGAGATGCCTGCTCTCCCTTCACCTTCTGCCATGACTGGAAGCTTCCTGAGGCCTCCCTAGAAGCTGAGCAGATGCCTGTGCCATGCTTCCTGTACAGTCTGCAGAACCAGGGGCCAATTAAACCTCTTTTCTTTATAAATTAACCAGCCTCATGCATTTCTTTATAGCAATGCAAGAACGGCCTC... | pathogenic | 41,815 |
A genetic variant at chromosome 2, position 110160193, affecting gene NPHP1 (nephrocystin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | TCCATGTAATCAAGGACCATATATTATATGATTCCAATTCTTTTCAATTTGTCTAGGTTTGTTTTCTGACCCAGGACCGTCTATATTGGTGACTATTCCATATGTACTTAAGAGAAAGTGTATTTTACTATTTTGAGGTGAAGTGTTATGTGAATATCAATCTAATCCAGTTTGTTGATATGTTATACAGTTCTCTTACATCCTTACTAATTTTCTGTCTGCTTGTCCTATATTACTGAGAGAGAAGTGTTAAACTCCCCAACTATAATAGAGGCCCCAACTATAATTGTGACTTTGTCGGTTTCTCTTTTCAGTTCTAA... | TCCATGTAATCAAGGACCATATATTATATGATTCCAATTCTTTTCAATTTGTCTAGGTTTGTTTTCTGACCCAGGACCGTCTATATTGGTGACTATTCCATATGTACTTAAGAGAAAGTGTATTTTACTATTTTGAGGTGAAGTGTTATGTGAATATCAATCTAATCCAGTTTGTTGATATGTTATACAGTTCTCTTACATCCTTACTAATTTTCTGTCTGCTTGTCCTATATTACTGAGAGAGAAGTGTTAAACTCCCCAACTATAATAGAGGCCCCAACTATAATTGTGACTTTGTCGGTTTCTCTTTTCAGTTCTAA... | pathogenic | 41,819 |
Is the chromosome 2, position 110164723 variant in NPHP1 (nephrocystin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | ATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACG... | ATGGGATAGGATTCAAGGGGCTGATCCTTTAAGGTGGGGAGAATTAGGTGTGCTGATAGCACAGATGAGGGAATGAACCAGTGTGGGGAAGGTGGGCCAGCTAAAGACACAGGAAAGGGCTGAAAATTAAAGGAGTCACATTTTTGAAAAAAAGAAAGGGGCTGGAACCCGGAGCACTGGTAAACAGGCTGGCCTCTGATAGGATCAGGGATCTTTCCTCACTGTCATAGGAAGGATGAGGAAAAGATGAGCACCAAAGAGATGTGAGATTCAACATCTTCTTCAACAATGTGTTTTGCCTGTGACAGAAAAATTAGACG... | pathogenic | 41,840 |
Is the genetic variant on chromosome 2, position 110168520, gene NPHP1 (nephrocystin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | TGTGTAACTTCCAAGAAACCTTCTTAAAAAGGCAGCAGCTTATGCCTTTTGAATTCTTTCCCCTTTTGCTCCTTGGAATCCTTAAAAGATCCAGCAGCTGACTTAAAACTAAAGAGATAACTCTAGGCAGAGCAGCCTCACATCAGAAACAGGATAAAATACTGGATAGGATCTTAACCAATTATTGATTGCTTTTCTCCACACTTTTATGCTTGAGAGAAATAGGCTTCTACCTTATTTAAGCTACTTTTTGGGGGGATCTTTTTGCAACTGACAGTGGATGCTAATCCCATGTTCTTTGCAACATAATCGATAGTGAT... | TGTGTAACTTCCAAGAAACCTTCTTAAAAAGGCAGCAGCTTATGCCTTTTGAATTCTTTCCCCTTTTGCTCCTTGGAATCCTTAAAAGATCCAGCAGCTGACTTAAAACTAAAGAGATAACTCTAGGCAGAGCAGCCTCACATCAGAAACAGGATAAAATACTGGATAGGATCTTAACCAATTATTGATTGCTTTTCTCCACACTTTTATGCTTGAGAGAAATAGGCTTCTACCTTATTTAAGCTACTTTTTGGGGGGATCTTTTTGCAACTGACAGTGGATGCTAATCCCATGTTCTTTGCAACATAATCGATAGTGAT... | pathogenic | 41,849 |
Does the genetic variant at chromosome 2, position 110168520, impacting gene NPHP1 (nephrocystin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | TGTGTAACTTCCAAGAAACCTTCTTAAAAAGGCAGCAGCTTATGCCTTTTGAATTCTTTCCCCTTTTGCTCCTTGGAATCCTTAAAAGATCCAGCAGCTGACTTAAAACTAAAGAGATAACTCTAGGCAGAGCAGCCTCACATCAGAAACAGGATAAAATACTGGATAGGATCTTAACCAATTATTGATTGCTTTTCTCCACACTTTTATGCTTGAGAGAAATAGGCTTCTACCTTATTTAAGCTACTTTTTGGGGGGATCTTTTTGCAACTGACAGTGGATGCTAATCCCATGTTCTTTGCAACATAATCGATAGTGAT... | TGTGTAACTTCCAAGAAACCTTCTTAAAAAGGCAGCAGCTTATGCCTTTTGAATTCTTTCCCCTTTTGCTCCTTGGAATCCTTAAAAGATCCAGCAGCTGACTTAAAACTAAAGAGATAACTCTAGGCAGAGCAGCCTCACATCAGAAACAGGATAAAATACTGGATAGGATCTTAACCAATTATTGATTGCTTTTCTCCACACTTTTATGCTTGAGAGAAATAGGCTTCTACCTTATTTAAGCTACTTTTTGGGGGGATCTTTTTGCAACTGACAGTGGATGCTAATCCCATGTTCTTTGCAACATAATCGATAGTGAT... | pathogenic | 41,850 |
The mutation in gene NPHP1 (nephrocystin 1) at chromosome 2, position 110169844—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | CTAGCTCCAGGCATTAGCATCAGAATCGAATTGAATTGCTGACACCGGTTGGTGTAGAAGAACTGATGTAATAACACATATTTGGTGTCAGAGAAAAACCACATACTTGGTGTCAGAAGTGGCATCAGCAAAAAGATATCTCAGTGTGGCTACTGAAAAATTTAAATTACATGTGTGGTTTGCATCATAGTTCTACTGGACAGTGCTGATCCAGACAGAAATCTATATATCTTGGCACAGAAAATGACCATGTTATTTTATGAAATAAGAAAATACAAGCTACAAACACACATGTATAGTATGTTCACATTTTAGTAAGG... | CTAGCTCCAGGCATTAGCATCAGAATCGAATTGAATTGCTGACACCGGTTGGTGTAGAAGAACTGATGTAATAACACATATTTGGTGTCAGAGAAAAACCACATACTTGGTGTCAGAAGTGGCATCAGCAAAAAGATATCTCAGTGTGGCTACTGAAAAATTTAAATTACATGTGTGGTTTGCATCATAGTTCTACTGGACAGTGCTGATCCAGACAGAAATCTATATATCTTGGCACAGAAAATGACCATGTTATTTTATGAAATAAGAAAATACAAGCTACAAACACACATGTATAGTATGTTCACATTTTAGTAAGG... | pathogenic | 41,852 |
A mutation at chromosome position 110169941 on chromosome 2 in gene NPHP1 (nephrocystin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | ACCACATACTTGGTGTCAGAAGTGGCATCAGCAAAAAGATATCTCAGTGTGGCTACTGAAAAATTTAAATTACATGTGTGGTTTGCATCATAGTTCTACTGGACAGTGCTGATCCAGACAGAAATCTATATATCTTGGCACAGAAAATGACCATGTTATTTTATGAAATAAGAAAATACAAGCTACAAACACACATGTATAGTATGTTCACATTTTAGTAAGGGGATCACATATTTGTGGAAGTTAACACAAAGTTAACTGCAGTTATGTTTTACAATAAACAATAGACACCTATTATTTGTTATGATCAGCATTAATCC... | ACCACATACTTGGTGTCAGAAGTGGCATCAGCAAAAAGATATCTCAGTGTGGCTACTGAAAAATTTAAATTACATGTGTGGTTTGCATCATAGTTCTACTGGACAGTGCTGATCCAGACAGAAATCTATATATCTTGGCACAGAAAATGACCATGTTATTTTATGAAATAAGAAAATACAAGCTACAAACACACATGTATAGTATGTTCACATTTTAGTAAGGGGATCACATATTTGTGGAAGTTAACACAAAGTTAACTGCAGTTATGTTTTACAATAAACAATAGACACCTATTATTTGTTATGATCAGCATTAATCC... | pathogenic | 41,856 |
Gene NPHP1 (nephrocystin 1) variant at chromosome 2, position 110179645—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | CAAAACAATCCAAAACTGAAGATACTTCTGATCCCAAGCATTTCAGATAAGGAATACTCAACTTGTATATGTAAGTCTTCTTTACAACTTTCAGAAGCTATTATTAACATACACTCTGGCAGACAAACAATGCATGTCCCTACTTCAATTTTTTTTTTTTTTAATAGAGACAGTGTCTCACTCCGTTGCCCAGGCTGTGCACTGAGGTGATTATAGCTCACTGCAGCCTGGAACTTCTGGGCTCAAGCAATCCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACGTGCCACCAAGCCTGACTAGTTTGGGT... | CAAAACAATCCAAAACTGAAGATACTTCTGATCCCAAGCATTTCAGATAAGGAATACTCAACTTGTATATGTAAGTCTTCTTTACAACTTTCAGAAGCTATTATTAACATACACTCTGGCAGACAAACAATGCATGTCCCTACTTCAATTTTTTTTTTTTTTAATAGAGACAGTGTCTCACTCCGTTGCCCAGGCTGTGCACTGAGGTGATTATAGCTCACTGCAGCCTGGAACTTCTGGGCTCAAGCAATCCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACGTGCCACCAAGCCTGACTAGTTTGGGT... | pathogenic | 41,862 |
Variant at chromosome position 110201380, chromosome 2, gene NPHP1 (nephrocystin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis'] | GCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGACAGAGTGAGACTCCATCTTAAAAAAAAAAAAACCAATATGACTGCTGAAATAAAACAATATGGCTGTTGAAATAGGTAATAAAGAAAAGTGTTAAAGTCAAGAGAATTGCTAGCATGGTAGCTCGTGGCGGGGGAGGGGGGCATCCCTTGAGCCTGGGAGGCAGAAGGTGCAGTGAGCCATGATTGTGCCACTTCATTACAGCCTGAACGACAGAGTGAGACCCCCCACATCCCCCCAAAAAAACATCTCCCATACAAA... | GCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGACAGAGTGAGACTCCATCTTAAAAAAAAAAAAACCAATATGACTGCTGAAATAAAACAATATGGCTGTTGAAATAGGTAATAAAGAAAAGTGTTAAAGTCAAGAGAATTGCTAGCATGGTAGCTCGTGGCGGGGGAGGGGGGCATCCCTTGAGCCTGGGAGGCAGAAGGTGCAGTGAGCCATGATTGTGCCACTTCATTACAGCCTGAACGACAGAGTGAGACCCCCCACATCCCCCCAAAAAAACATCTCCCATACAAA... | pathogenic | 41,865 |
Does the genetic variant at chromosome 2, position 110201476, impacting gene NPHP1 (nephrocystin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | ATATGACTGCTGAAATAAAACAATATGGCTGTTGAAATAGGTAATAAAGAAAAGTGTTAAAGTCAAGAGAATTGCTAGCATGGTAGCTCGTGGCGGGGGAGGGGGGCATCCCTTGAGCCTGGGAGGCAGAAGGTGCAGTGAGCCATGATTGTGCCACTTCATTACAGCCTGAACGACAGAGTGAGACCCCCCACATCCCCCCAAAAAAACATCTCCCATACAAACAAAGAAACAGAAACTATTAACAGGAAGTTATGGGATATAGAGGATCAGTCCAGGATATCCAATACCTGACTCAAAGGTGTTTCAGGAAGAAACAG... | ATATGACTGCTGAAATAAAACAATATGGCTGTTGAAATAGGTAATAAAGAAAAGTGTTAAAGTCAAGAGAATTGCTAGCATGGTAGCTCGTGGCGGGGGAGGGGGGCATCCCTTGAGCCTGGGAGGCAGAAGGTGCAGTGAGCCATGATTGTGCCACTTCATTACAGCCTGAACGACAGAGTGAGACCCCCCACATCCCCCCAAAAAAACATCTCCCATACAAACAAAGAAACAGAAACTATTAACAGGAAGTTATGGGATATAGAGGATCAGTCCAGGATATCCAATACCTGACTCAAAGGTGTTTCAGGAAGAAACAG... | pathogenic | 41,870 |
Mutation found at chromosome 2 position 110204898, gene NPHP1 (nephrocystin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Joubert_syndrome_with_renal_defect', 'Nephronophthisis', 'Nephronophthisis_1', 'Senior-Loken_syndrome_1'] | GGAAAGCAGTTTGGAGATTTCCCAAACAACGTAAAACAGAACTATCATTTGACCCAGAAATCCCATTTCCGTGTATATACCCCCAAAAAAGAAATGATTCTACCAAAATGTCACATGCATGTGTATGTTCCCTACAGCACTATTCACAATAGCAAAGACATGGAATCAACATAGATGCCCACCAATGGTGGACTGGATAAAGAAAATGTGGTACATATACACCATGAAAAAATATGCAACCATAAAAAAGAATGAAATCATGTCCTTTGCAGCAACATGGATGGAGCTGGAGGCCATTGTCCTAAGTGAATTAGCATAGG... | GGAAAGCAGTTTGGAGATTTCCCAAACAACGTAAAACAGAACTATCATTTGACCCAGAAATCCCATTTCCGTGTATATACCCCCAAAAAAGAAATGATTCTACCAAAATGTCACATGCATGTGTATGTTCCCTACAGCACTATTCACAATAGCAAAGACATGGAATCAACATAGATGCCCACCAATGGTGGACTGGATAAAGAAAATGTGGTACATATACACCATGAAAAAATATGCAACCATAAAAAAGAATGAAATCATGTCCTTTGCAGCAACATGGATGGAGCTGGAGGCCATTGTCCTAAGTGAATTAGCATAGG... | pathogenic | 41,872 |
Mutation found at chromosome 2 position 111929282, gene MERTK (MER proto-oncogene, tyrosine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_38'] | ATCAAAGGGGCCTGGGAGGGAGCAGTTGCTGGAATGGGAGAGGGAGCTGCATGGCAAGGGCTCCCAGACAGGGGTATGCCCTTCAGTTGAGGCATATGTGCTGTCCAGAGTGGCTTGGCAGAGAGGAACCTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGT... | ATCAAAGGGGCCTGGGAGGGAGCAGTTGCTGGAATGGGAGAGGGAGCTGCATGGCAAGGGCTCCCAGACAGGGGTATGCCCTTCAGTTGAGGCATATGTGCTGTCCAGAGTGGCTTGGCAGAGAGGAACCTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGT... | pathogenic | 41,931 |
Variant in gene MERTK (MER proto-oncogene, tyrosine kinase), located at chromosome 2 position 111929348: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa_38'] | GACAGGGGTATGCCCTTCAGTTGAGGCATATGTGCTGTCCAGAGTGGCTTGGCAGAGAGGAACCTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGTACAACCTACTCGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTAGGAGATTGAAGTTGCAGTGAGT... | GACAGGGGTATGCCCTTCAGTTGAGGCATATGTGCTGTCCAGAGTGGCTTGGCAGAGAGGAACCTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGTACAACCTACTCGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTAGGAGATTGAAGTTGCAGTGAGT... | pathogenic | 41,933 |
For chromosome 2, position 111944979, gene MERTK (MER proto-oncogene, tyrosine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | AATGGTATTGTTGGGAAGAAGTAAATTTAAAATGTTTAGTGTTCAGAAAACTGAATTCAACCTAAGGAAACTCTGTCTCATTCAGACCTGGGGACCTCACTCACTACCACATGTCTGCTCCAGATGCTAACCAGGCTGTGCTATCCTCTGGCAGCTGCCACCCCTGCCTATCAGGCCATGGTTCAGGATGGAGCCCCCTCTACCCTTGACAGCTTCCTGGTTTCTTTTAAGCCTTAAGCCTCAGCCCTTCACAGGTTGAGGGATGAGATTTATTTTGTTTAGAAATAAATAGGTTATACAGGGAAGCAAGCTTCTAGGAA... | AATGGTATTGTTGGGAAGAAGTAAATTTAAAATGTTTAGTGTTCAGAAAACTGAATTCAACCTAAGGAAACTCTGTCTCATTCAGACCTGGGGACCTCACTCACTACCACATGTCTGCTCCAGATGCTAACCAGGCTGTGCTATCCTCTGGCAGCTGCCACCCCTGCCTATCAGGCCATGGTTCAGGATGGAGCCCCCTCTACCCTTGACAGCTTCCTGGTTTCTTTTAAGCCTTAAGCCTCAGCCCTTCACAGGTTGAGGGATGAGATTTATTTTGTTTAGAAATAAATAGGTTATACAGGGAAGCAAGCTTCTAGGAA... | pathogenic | 41,937 |
Clinical significance of chromosome 2, position 111975319, gene MERTK: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['MERTK-related_disorder', 'Retinitis_pigmentosa_38'] | CACCTTCGCTTTGGTGGTTGGTCACCAGGAAGTAGGTGCACACTCTAAAGTGAAACAAACAAAAAGTGATGTCTGCCAACAGCCACCACCAAGACAAGCGTCTGGGTTCTCGTTTCTCCTCTGGTGGCTCCTCAGGCCAAATGATACCTTCTTGTCACCCACGGGGTCTGAGTCAGAGGTGAAACTCAACCCCCACACCGTACTCCTGGTATCTGCCAGGGGATTTGGAATTCCAGAATGTTTATTTCTGGTTCATTGACCTAAGATTCAAGCACACATAGCCTGAAATTACAGTACTGTATATCCAGAGCCCAGAACTG... | CACCTTCGCTTTGGTGGTTGGTCACCAGGAAGTAGGTGCACACTCTAAAGTGAAACAAACAAAAAGTGATGTCTGCCAACAGCCACCACCAAGACAAGCGTCTGGGTTCTCGTTTCTCCTCTGGTGGCTCCTCAGGCCAAATGATACCTTCTTGTCACCCACGGGGTCTGAGTCAGAGGTGAAACTCAACCCCCACACCGTACTCCTGGTATCTGCCAGGGGATTTGGAATTCCAGAATGTTTATTTCTGGTTCATTGACCTAAGATTCAAGCACACATAGCCTGAAATTACAGTACTGTATATCCAGAGCCCAGAACTG... | pathogenic | 41,946 |
A genetic variant at chromosome 2, position 111994252, affecting gene MERTK (MER proto-oncogene, tyrosine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinitis_pigmentosa_38'] | TCCTCGCTCAGTCTAATAGTACTAGATCATGCCTTTTTTGTCCAATCACAGTTCTACATGGTTGTCAATCACGCCTATCCAATGGAGCCTCCATGAAAGGCCCATGAGGATGGGGTTCAGAGAGCTTCCAGGTAGTGGAATACGTGGAGGTTTCCAGAGGGTGGTGCACCCAGGGCGGGCATGAAAGCTCTGCACCCCTTCCCATGTGCCTTGCCCTGTATAGCTCTTCATCTGTATCTTCTGCAATATCCTTAATAATAAACCAGTGACCAGGCATGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGC... | TCCTCGCTCAGTCTAATAGTACTAGATCATGCCTTTTTTGTCCAATCACAGTTCTACATGGTTGTCAATCACGCCTATCCAATGGAGCCTCCATGAAAGGCCCATGAGGATGGGGTTCAGAGAGCTTCCAGGTAGTGGAATACGTGGAGGTTTCCAGAGGGTGGTGCACCCAGGGCGGGCATGAAAGCTCTGCACCCCTTCCCATGTGCCTTGCCCTGTATAGCTCTTCATCTGTATCTTCTGCAATATCCTTAATAATAAACCAGTGACCAGGCATGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGC... | pathogenic | 41,953 |
Variant at chromosome 2, position 111997365, gene MERTK (MER proto-oncogene, tyrosine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTA... | CCATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTA... | benign | 41,960 |
Regarding the variant at chromosome 2 and position 112003121, affecting gene MERTK (MER proto-oncogene, tyrosine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinal_dystrophy'] | TAGGGGGAAAGCTTTTGTTGTAGAAGAGCCCATTGAAAAGCGGAAGCTCTGTAGCATCCTTGTGGAATCAGTGCCTGCCCCAGTAGCCCTGTTTTTATAGTGAAGTATCTTTGTTTTCATTCACCCAGGAATGCATTCACAGAGGAGGATTCTGAATTAGTGGTGAATTATATAGCAAAGAAATCCTTCTGTCGGCGAGCCATTGAACTTACCTGTAAGTTGACTTTCATTTCCCTTTTTGGCAAAAGTTAAAATAGTTGAGAACAAAGAAGGATCAATAGACAGATTTCTAACAAAAGCCAAAGATGTCGAAGAAGAAT... | TAGGGGGAAAGCTTTTGTTGTAGAAGAGCCCATTGAAAAGCGGAAGCTCTGTAGCATCCTTGTGGAATCAGTGCCTGCCCCAGTAGCCCTGTTTTTATAGTGAAGTATCTTTGTTTTCATTCACCCAGGAATGCATTCACAGAGGAGGATTCTGAATTAGTGGTGAATTATATAGCAAAGAAATCCTTCTGTCGGCGAGCCATTGAACTTACCTGTAAGTTGACTTTCATTTCCCTTTTTGGCAAAAGTTAAAATAGTTGAGAACAAAGAAGGATCAATAGACAGATTTCTAACAAAAGCCAAAGATGTCGAAGAAGAAT... | pathogenic | 41,965 |
Gene MERTK (MER proto-oncogene, tyrosine kinase) variant at chromosome position 112010026 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_38'] | ATTTCTCCTATTATTAATGTCTTTTATTAGTGAGCTGCATTTTTTGCAATTGATGAACCCATACTGATACATTATTATTAACCAGAGTCCATATTTTACATTAGGGTTCACTCTTGGTGTTATACAGCTCTGTGGGTTTTGACAAATGTGTAGTGTCATGCATCCATCATTATAGTATCATACAGAATTATTTCTTGGCCCCAAAAGTCCCCTGTGCTTTGCCTGTTTGCCCCTCTCTTATCTCCCCTAGCCCTACTAGCCCCTGACAACCACTCATCTGTTTCCTGTCTCTATACTTTCATCTCTTCCTGACCTGGGTT... | ATTTCTCCTATTATTAATGTCTTTTATTAGTGAGCTGCATTTTTTGCAATTGATGAACCCATACTGATACATTATTATTAACCAGAGTCCATATTTTACATTAGGGTTCACTCTTGGTGTTATACAGCTCTGTGGGTTTTGACAAATGTGTAGTGTCATGCATCCATCATTATAGTATCATACAGAATTATTTCTTGGCCCCAAAAGTCCCCTGTGCTTTGCCTGTTTGCCCCTCTCTTATCTCCCCTAGCCCTACTAGCCCCTGACAACCACTCATCTGTTTCCTGTCTCTATACTTTCATCTCTTCCTGACCTGGGTT... | pathogenic | 41,972 |
Does the variant on chromosome 2 at location 112010053 affecting gene MERTK (MER proto-oncogene, tyrosine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_38'] | TAGTGAGCTGCATTTTTTGCAATTGATGAACCCATACTGATACATTATTATTAACCAGAGTCCATATTTTACATTAGGGTTCACTCTTGGTGTTATACAGCTCTGTGGGTTTTGACAAATGTGTAGTGTCATGCATCCATCATTATAGTATCATACAGAATTATTTCTTGGCCCCAAAAGTCCCCTGTGCTTTGCCTGTTTGCCCCTCTCTTATCTCCCCTAGCCCTACTAGCCCCTGACAACCACTCATCTGTTTCCTGTCTCTATACTTTCATCTCTTCCTGACCTGGGTTTTAGAGAACAGAACTGCTGTTGCCCAC... | TAGTGAGCTGCATTTTTTGCAATTGATGAACCCATACTGATACATTATTATTAACCAGAGTCCATATTTTACATTAGGGTTCACTCTTGGTGTTATACAGCTCTGTGGGTTTTGACAAATGTGTAGTGTCATGCATCCATCATTATAGTATCATACAGAATTATTTCTTGGCCCCAAAAGTCCCCTGTGCTTTGCCTGTTTGCCCCTCTCTTATCTCCCCTAGCCCTACTAGCCCCTGACAACCACTCATCTGTTTCCTGTCTCTATACTTTCATCTCTTCCTGACCTGGGTTTTAGAGAACAGAACTGCTGTTGCCCAC... | pathogenic | 41,973 |
The genetic variant at chromosome 2, position 112021445, affecting gene MERTK (MER proto-oncogene, tyrosine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinitis_pigmentosa_38'] | TTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGG... | TTCCTCTATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGG... | pathogenic | 41,979 |
Variant on chromosome 2, at position 112022282, affecting MERTK (MER proto-oncogene, tyrosine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_38'] | ACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTT... | ACACTAAAGGGGTTTTGGTTTTGTTATTGTTATTATTTAAATAATTTTTCGACCATGGAGGGAGAATCATGAAAACTCTTTTTCCCTTACTGTTTCCTTCATGTTTTCCCAGCAGGTAGGGTGACCAGCTTTGCAGTTTACCCTGGCCTGAGGGGTTTCTCAGGACAAGGGATTTTGAGTGTAAAAAGGCAGTGTCAAGCAAACAGGGACAAGTTAGTCACCTTCCCCAGACTACTTTATATCTATTTCTTCTCCTTCTCTTCCTTTTATTCTTTCTTCTCCTCTTCCTTCTTCTTGTGTAGGAGCTGTTTTAGTAGCTT... | pathogenic | 41,983 |
Gene mutation in CKAP2L (cytoskeleton associated protein 2 like) at chromosome 2, position 112756277—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Filippi_syndrome'] | CCGTTTTTTGTCTTTATAGTTTTGGTTTTTCCAGAATGCCAATAACTAAGTTTTGAATGAATGAATGCTATTAACTCTCATTTCTGACTCCAGAGCAACATCCATGCAATATTTATTATTTCAGCCCCAAATACTGCCCCCTCACCTTCACTCCAACCACCTACTTGATGATACAAGGTGAGACATTTGGCATGTGCTTCCTCCATGTTCCTAGCATTTTCCCTATCTCCTTAGCCTTCCTTCTAATCATAAACGAAGAGTGAACTTTCCCTTTCTAAAGGCAACTTACTCCTAGGACCTCGATGCCATAATTTTGTTTC... | CCGTTTTTTGTCTTTATAGTTTTGGTTTTTCCAGAATGCCAATAACTAAGTTTTGAATGAATGAATGCTATTAACTCTCATTTCTGACTCCAGAGCAACATCCATGCAATATTTATTATTTCAGCCCCAAATACTGCCCCCTCACCTTCACTCCAACCACCTACTTGATGATACAAGGTGAGACATTTGGCATGTGCTTCCTCCATGTTCCTAGCATTTTCCCTATCTCCTTAGCCTTCCTTCTAATCATAAACGAAGAGTGAACTTTCCCTTTCTAAAGGCAACTTACTCCTAGGACCTCGATGCCATAATTTTGTTTC... | pathogenic | 42,036 |
Is the genetic change at chromosome 2, position 112756869, within gene CKAP2L (cytoskeleton associated protein 2 like) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Filippi_syndrome'] | GGTCTCTGCACTCACTTCTCTTTCTGCTCAGGATTGTTTTTCTTCTTGTCACCAGTCTTTTCTCAGACTTAGGTCTCAGCTCAGACATTGCTGTTGAAAGTACTTCTACTGATCCTTTTATCTAAAGCAGCCATTCCAGCCCTACTCTCTTGATCATAGCACCCTGAATTAAGTTGTTTACTTACTGTCTCTTCAGGAGGGCAAGGAGCTTGGTGGTGGTGTTCAGGGCTGTACCAAGCTGTACCTTGCTTCACCCTGCTACACTTTTTAGCAACCATCTAATTTTACATGCTCCCTTCACTCGTCAGAAATTTCCTTAT... | GGTCTCTGCACTCACTTCTCTTTCTGCTCAGGATTGTTTTTCTTCTTGTCACCAGTCTTTTCTCAGACTTAGGTCTCAGCTCAGACATTGCTGTTGAAAGTACTTCTACTGATCCTTTTATCTAAAGCAGCCATTCCAGCCCTACTCTCTTGATCATAGCACCCTGAATTAAGTTGTTTACTTACTGTCTCTTCAGGAGGGCAAGGAGCTTGGTGGTGGTGTTCAGGGCTGTACCAAGCTGTACCTTGCTTCACCCTGCTACACTTTTTAGCAACCATCTAATTTTACATGCTCCCTTCACTCGTCAGAAATTTCCTTAT... | pathogenic | 42,041 |
Located at chromosome 2 position 120927370, the variant affecting gene GLI2 (GLI family zinc finger 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Holoprosencephaly_9', 'Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome'] | TATGAAGATGGAGTTGAACATGTAAAAATTAAAGTTAAAATTTCAGGAGAAAAATTTCTTCCCATTAAGAATCCATTGTGTTCAACCCAAGCATCCATTGACAGATGAGTGGACAAAAAAAATGTGGTCTATCCAATACAATAGATTGTTATTCAGCCTTAAAAAGGAAGGAGATTCTGGCACAGGCTGTAACATGGATGAACCTTGAGGACATTATGCGAAGTGAAATAAGCCAGTCTCAAAAGGACAAATACTGTCTGATCTTTCCTGCATGGAATAGCTAGCATGGGAAATTCATAGAGGCAGGAGGTAGAATGGTG... | TATGAAGATGGAGTTGAACATGTAAAAATTAAAGTTAAAATTTCAGGAGAAAAATTTCTTCCCATTAAGAATCCATTGTGTTCAACCCAAGCATCCATTGACAGATGAGTGGACAAAAAAAATGTGGTCTATCCAATACAATAGATTGTTATTCAGCCTTAAAAAGGAAGGAGATTCTGGCACAGGCTGTAACATGGATGAACCTTGAGGACATTATGCGAAGTGAAATAAGCCAGTCTCAAAAGGACAAATACTGTCTGATCTTTCCTGCATGGAATAGCTAGCATGGGAAATTCATAGAGGCAGGAGGTAGAATGGTG... | pathogenic | 42,204 |
Benign or pathogenic: chromosome 2, position 120990246, gene GLI2 (GLI family zinc finger 2) variant? Disease(s) if pathogenic? | benign | TCTCCCGCAGGCTCCATCCTGGAAAACTTCAGTGGCAGTGGGGGCGGCGGGCCCGCGGGGCTGCTGCCGAACCCGCGGCTGTCGGAGCTGTCCGCGAGCGAGGTGACCATGCTGAGCCAGCTGCAGGAGCGCCGCGACAGCTCCACCAGCACGGTCAGCTCGGCCTACACCGTGAGCCGCCGCTCCTCCGGCATCTCCCCCTACTTCTCCAGCCGCCGCTCCAGCGAGGCCTCGCCCCTGGGCGCCGGCCGCCCGCACAACGCGAGCTCCGCTGACTCCTACGACCCCATCTCCACGGACGCGTCGCGGCGCTCGAGCGA... | TCTCCCGCAGGCTCCATCCTGGAAAACTTCAGTGGCAGTGGGGGCGGCGGGCCCGCGGGGCTGCTGCCGAACCCGCGGCTGTCGGAGCTGTCCGCGAGCGAGGTGACCATGCTGAGCCAGCTGCAGGAGCGCCGCGACAGCTCCACCAGCACGGTCAGCTCGGCCTACACCGTGAGCCGCCGCTCCTCCGGCATCTCCCCCTACTTCTCCAGCCGCCGCTCCAGCGAGGCCTCGCCCCTGGGCGCCGGCCGCCCGCACAACGCGAGCTCCGCTGACTCCTACGACCCCATCTCCACGGACGCGTCGCGGCGCTCGAGCGA... | benign | 42,305 |
Is the genetic change at chromosome 2, position 127272933, within gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ERCC3-related_disorder', 'Trichothiodystrophy_2,_photosensitive', 'Xeroderma_pigmentosum_group_B'] | TCTGCACAGGTTATGAATGACGTGCCCATTGTGTGTCTGCCCAAGCTGCTCCTACCAAACCTTTCCCTGCCTCCTGATCAAGTTCCAGAAGCAGCTTCCAGCTCCTCCACTTACACTGGTGGCCCAGCTCTGTTTTCTCCCTTCCATGTCTACCCCATAAGCACTGCCTTGCCCTGGCTCCCTCTCACCATCTACCAACACAGCTGCACAGTGTACAGAGCACATCTGTGTGGATTCCGTGACACTGTCATGGAAAACACCTGCATATTCACCCCCAAGGTATGAGAAATAATGATGGGCCATAAGGATCTAGGTCTTTG... | TCTGCACAGGTTATGAATGACGTGCCCATTGTGTGTCTGCCCAAGCTGCTCCTACCAAACCTTTCCCTGCCTCCTGATCAAGTTCCAGAAGCAGCTTCCAGCTCCTCCACTTACACTGGTGGCCCAGCTCTGTTTTCTCCCTTCCATGTCTACCCCATAAGCACTGCCTTGCCCTGGCTCCCTCTCACCATCTACCAACACAGCTGCACAGTGTACAGAGCACATCTGTGTGGATTCCGTGACACTGTCATGGAAAACACCTGCATATTCACCCCCAAGGTATGAGAAATAATGATGGGCCATAAGGATCTAGGTCTTTG... | pathogenic | 42,474 |
Located at chromosome 2 position 127272934, the variant affecting gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Trichothiodystrophy_2,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_B'] | CTGCACAGGTTATGAATGACGTGCCCATTGTGTGTCTGCCCAAGCTGCTCCTACCAAACCTTTCCCTGCCTCCTGATCAAGTTCCAGAAGCAGCTTCCAGCTCCTCCACTTACACTGGTGGCCCAGCTCTGTTTTCTCCCTTCCATGTCTACCCCATAAGCACTGCCTTGCCCTGGCTCCCTCTCACCATCTACCAACACAGCTGCACAGTGTACAGAGCACATCTGTGTGGATTCCGTGACACTGTCATGGAAAACACCTGCATATTCACCCCCAAGGTATGAGAAATAATGATGGGCCATAAGGATCTAGGTCTTTGC... | CTGCACAGGTTATGAATGACGTGCCCATTGTGTGTCTGCCCAAGCTGCTCCTACCAAACCTTTCCCTGCCTCCTGATCAAGTTCCAGAAGCAGCTTCCAGCTCCTCCACTTACACTGGTGGCCCAGCTCTGTTTTCTCCCTTCCATGTCTACCCCATAAGCACTGCCTTGCCCTGGCTCCCTCTCACCATCTACCAACACAGCTGCACAGTGTACAGAGCACATCTGTGTGGATTCCGTGACACTGTCATGGAAAACACCTGCATATTCACCCCCAAGGTATGAGAAATAATGATGGGCCATAAGGATCTAGGTCTTTGC... | pathogenic | 42,475 |
Evaluate if the mutation on chromosome 2 at position 127280552 in ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['ERCC3-related_disorder', 'Trichothiodystrophy_2,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_B', 'likely other unspecified diseases'] | GCTGAAGTGAGGATTAAGTAAAACCTATGTATAGTACCCATAGCACATAGCTTGACCTGTCTCCATAGAGGGCCTGGCCTTCTGCAACACTTACAGCACCTGAAGTCCTGTGTCACTGTAGGAGCAAGCGCAGACCTCTTCCTCCTTACTTGGCAGAGCTTTACAAAAGCCAGGTTTTAAGCACAAATATTTGGGTGGAGCCATGGGTTGATGAGGATACTGCGTGGGCATTTCTAAGCTCCTTCCAGATGCCAGTCCGTACTTGGGATGCCAGCCCAGCCCATCTTGCCTTCCCAGCCCCTAGGCCATCCAGTCTGGCC... | GCTGAAGTGAGGATTAAGTAAAACCTATGTATAGTACCCATAGCACATAGCTTGACCTGTCTCCATAGAGGGCCTGGCCTTCTGCAACACTTACAGCACCTGAAGTCCTGTGTCACTGTAGGAGCAAGCGCAGACCTCTTCCTCCTTACTTGGCAGAGCTTTACAAAAGCCAGGTTTTAAGCACAAATATTTGGGTGGAGCCATGGGTTGATGAGGATACTGCGTGGGCATTTCTAAGCTCCTTCCAGATGCCAGTCCGTACTTGGGATGCCAGCCCAGCCCATCTTGCCTTCCCAGCCCCTAGGCCATCCAGTCTGGCC... | pathogenic | 42,485 |
Classify the chromosome 2 variant at position 127286924 affecting gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Trichothiodystrophy_2,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_B'] | CATGTCTCACTATGTTACCCAGGCTAATCTTAAGCTCCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCAAAGTGCTAGGAGACTACAGGTGTCAGCCACCATGCCCACTCCTAATTTGTTAATCTTAATCCCTTAATCTGTTTTTATCAAAAAAGATTCGCCCAAAAAACTATACAGCAATAAAAGGAACAAACTACTGATAAATGCTAAGGCACAGATGAATCATTATGGGAAGTGAAAGAAGCCAGACATAATATATATTGTATGATTGTGTTTATATAAATTTTCCATAAAAAGCAAATCTATAGTGACAGCAG... | CATGTCTCACTATGTTACCCAGGCTAATCTTAAGCTCCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCAAAGTGCTAGGAGACTACAGGTGTCAGCCACCATGCCCACTCCTAATTTGTTAATCTTAATCCCTTAATCTGTTTTTATCAAAAAAGATTCGCCCAAAAAACTATACAGCAATAAAAGGAACAAACTACTGATAAATGCTAAGGCACAGATGAATCATTATGGGAAGTGAAAGAAGCCAGACATAATATATATTGTATGATTGTGTTTATATAAATTTTCCATAAAAAGCAAATCTATAGTGACAGCAG... | pathogenic | 42,495 |
The mutation impacting PROC (protein C, inactivator of coagulation factors Va and VIIIa) on chromosome 2 at position 127423317: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant'] | CCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCT... | CCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCT... | pathogenic | 42,544 |
Clinical significance of chromosome 2, position 127428466, gene PROC (protein C, inactivator of coagulation factors Va and VIIIa): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant'] | GAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCT... | GAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCT... | pathogenic | 42,563 |
For chromosome 2, position 127428766, gene PROC (protein C, inactivator of coagulation factors Va and VIIIa): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant'] | ACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAAC... | ACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAAC... | pathogenic | 42,575 |
Mutation at chromosome 2, position 135113216, within RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Warburg_micro_syndrome_1'] | AATCATTACTCCTGTTTGGGGCATTTCTTGAGGAGGATGTTTATAAAAATAAGGATTAATAATTCTTTATATACCAGAGATAATAAATTAGGCAAATGAGTAAAATCTCTCATAAGTTATTTTCTTTATTAAAAAATATTAAATATAAATACATTAAAGAGTGAATAGGAGAGGAATTTTCAGTATACAGGATAATCAGTTTGACTTTATTTTCATAAAAATTTGGCAGCAAATTTGTGACTTTAAAGGATATGGCAACTGAATGAGAAGTTTTAATTAATGTAGATGTCATAGCAAGATCAAGCTGCTTTATGATAATT... | AATCATTACTCCTGTTTGGGGCATTTCTTGAGGAGGATGTTTATAAAAATAAGGATTAATAATTCTTTATATACCAGAGATAATAAATTAGGCAAATGAGTAAAATCTCTCATAAGTTATTTTCTTTATTAAAAAATATTAAATATAAATACATTAAAGAGTGAATAGGAGAGGAATTTTCAGTATACAGGATAATCAGTTTGACTTTATTTTCATAAAAATTTGGCAGCAAATTTGTGACTTTAAAGGATATGGCAACTGAATGAGAAGTTTTAATTAATGTAGATGTCATAGCAAGATCAAGCTGCTTTATGATAATT... | pathogenic | 42,710 |
Does the genetic variant at chromosome 2, position 135115363, impacting gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['RAB3GAP1-related_disorder', 'Warburg_micro_syndrome_1'] | ACAATAATTTATGAAGGCAAACAGTTATTAAATGTTAGCTTTTTAACTGTAATTAGGAACTTAGTGCATATATATTGTTAAACTAAATTTGACTTGAGGTTACCTCTGTATCCGCTCCCTATTTAAAGAACTGCTACCTAACTTATTCCGTGTACAAACTGAAAGCTTAATTTAGGAGTATACTTTTGGAACAATTAACTGAGTCCCAGCCAGTCACAGCAGCTGAGGTTCAGTCAATCACAGGGCAACTGATCAGAGCATGCACAAATGAAGCAAACTCCGAGCTGTAACCAATCAAGCTGTTTCTGTACCTTACTTCC... | ACAATAATTTATGAAGGCAAACAGTTATTAAATGTTAGCTTTTTAACTGTAATTAGGAACTTAGTGCATATATATTGTTAAACTAAATTTGACTTGAGGTTACCTCTGTATCCGCTCCCTATTTAAAGAACTGCTACCTAACTTATTCCGTGTACAAACTGAAAGCTTAATTTAGGAGTATACTTTTGGAACAATTAACTGAGTCCCAGCCAGTCACAGCAGCTGAGGTTCAGTCAATCACAGGGCAACTGATCAGAGCATGCACAAATGAAGCAAACTCCGAGCTGTAACCAATCAAGCTGTTTCTGTACCTTACTTCC... | pathogenic | 42,714 |
Chromosome 2, position 135120826, gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Warburg_micro_syndrome_1'] | ATCTTGGGTTGTTTGCTCACCACATGTGGGTGAGGGTTTTTTCCCCTCACACAATAACCTCCAGTCCCATACCTTCCGATAAAGCCATTGTGCCAAGCAGGAGTGACATGTCCCAGTGTCTGGCTTAAGCAGAGAATCTTGCAATGCCCTCACACTGGACTGAGCCCTTTTGGTTTCATCCTAGGTTGTCAGTGCCGCCTTCCACACCTCAAGGCATGTGCCTTGAACCCCACTTATCCTCCAGGGTCCACAAAGATATTTCCATCATTTTTCATCCTAATCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT... | ATCTTGGGTTGTTTGCTCACCACATGTGGGTGAGGGTTTTTTCCCCTCACACAATAACCTCCAGTCCCATACCTTCCGATAAAGCCATTGTGCCAAGCAGGAGTGACATGTCCCAGTGTCTGGCTTAAGCAGAGAATCTTGCAATGCCCTCACACTGGACTGAGCCCTTTTGGTTTCATCCTAGGTTGTCAGTGCCGCCTTCCACACCTCAAGGCATGTGCCTTGAACCCCACTTATCCTCCAGGGTCCACAAAGATATTTCCATCATTTTTCATCCTAATCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT... | pathogenic | 42,717 |
Is the genetic variant on chromosome 2, position 135130667, gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['RAB3GAP1-related_disorder'] | AACGTTCCATGATCTTACCCTACCTCTTTTAATATTTTGTATGACTAGATTATAGACTTTTCCTACCTTTCTGAAGAAGCCTCAAAAAAGTTATGGGTTAATTCAGAATTAGTTGGTGAATTATAAAATTTAGATGTACTTGATGTATCTTAGTACTGATAGTATTTGTTAAGCATTCATTTATTTGTGTAAACATTGTAGCTGTTCAGAAGATTCAAATCGCTTTACCTCTGTTTATAATATGACAGACAGCTGGGTGCAATGGCTCATGCCTATAATCCCAGCATTTTGAGAGGTCGAGGCAGGTGGATTGCTTGAGC... | AACGTTCCATGATCTTACCCTACCTCTTTTAATATTTTGTATGACTAGATTATAGACTTTTCCTACCTTTCTGAAGAAGCCTCAAAAAAGTTATGGGTTAATTCAGAATTAGTTGGTGAATTATAAAATTTAGATGTACTTGATGTATCTTAGTACTGATAGTATTTGTTAAGCATTCATTTATTTGTGTAAACATTGTAGCTGTTCAGAAGATTCAAATCGCTTTACCTCTGTTTATAATATGACAGACAGCTGGGTGCAATGGCTCATGCCTATAATCCCAGCATTTTGAGAGGTCGAGGCAGGTGGATTGCTTGAGC... | pathogenic | 42,734 |
A mutation at chromosome position 135162605 on chromosome 2 in gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | TTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGTGGGGAGCCAAGATCGCACCACTGCACTCCAGTCTGGGCCAACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGACACATATGGGATCAGTTGACAAAACTGCAATAAAGATAGTAGGTTAGATTACAATTATTTTTATCAGTGTTAAATTTATTGTATATAATCAGAATCATTTGCATTTTGATTATATAATAAAATATTTTTAATTTTAGGAAATACAGATATTTTGGGATAAGGGACATGAGTGTG... | TTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGTGGGGAGCCAAGATCGCACCACTGCACTCCAGTCTGGGCCAACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGACACATATGGGATCAGTTGACAAAACTGCAATAAAGATAGTAGGTTAGATTACAATTATTTTTATCAGTGTTAAATTTATTGTATATAATCAGAATCATTTGCATTTTGATTATATAATAAAATATTTTTAATTTTAGGAAATACAGATATTTTGGGATAAGGGACATGAGTGTG... | pathogenic | 42,752 |
Mutation found at chromosome 2 position 135169036, gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACATATAACAAGCATCTGGTTGGTACATTTTTAAACTCAGTTTTAAATGTCTGGCTGAAGTAAACTGTTAGAATTTATTCATGTAACTTTTCATTAGCTGATACTTTATATCAATTTTACTAATTAGTCAAGATTTTAACACATTTTTTTAAAAAGTTGTGATGTAATTTCACTTGGTGTTTTTATAGCTTATAGTAATTCTATATATTTATAACTTTTCTTTAAAATTATAAATAGTAATAAGCCTTATCATGATTATAGGTATCTCTGGTATGTACATACTTAAATGGAATTCAGCAAATAAATGACTGACTGGATTT... | ACATATAACAAGCATCTGGTTGGTACATTTTTAAACTCAGTTTTAAATGTCTGGCTGAAGTAAACTGTTAGAATTTATTCATGTAACTTTTCATTAGCTGATACTTTATATCAATTTTACTAATTAGTCAAGATTTTAACACATTTTTTTAAAAAGTTGTGATGTAATTTCACTTGGTGTTTTTATAGCTTATAGTAATTCTATATATTTATAACTTTTCTTTAAAATTATAAATAGTAATAAGCCTTATCATGATTATAGGTATCTCTGGTATGTACATACTTAAATGGAATTCAGCAAATAAATGACTGACTGGATTT... | benign | 42,766 |
Considering the variant on chromosome 2, location 136114974, involving gene CXCR4 (C-X-C motif chemokine receptor 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Inherited_Immunodeficiency_Diseases', 'WHIM_syndrome_1'] | TTGAGAGAGTGCATGTAAAACTATGCTTAAATGAAGGGTGATCCAATTAGGCTTCTCAGGGAAAACCAAGAAACCTCAAGATAATTTCCTATCTGAAATCTAATTGTGTCCTCAAGTAGAATATGAATACCACTTTGAATTACCCCAGATCCATAGACGGCAGCAAAAATGTACAGCCAAATTGGATTCTATTTTAAGTAATTAAGTTATTTCCCTTCACAGGATCTATAATTTGCCTTGAACAAATGTGATTTGCCTCAGAAAGATAAGGCATTGCAATTTTTCCTCCAAAATGGATTTTCTGTGCCAGAAACAATTAC... | TTGAGAGAGTGCATGTAAAACTATGCTTAAATGAAGGGTGATCCAATTAGGCTTCTCAGGGAAAACCAAGAAACCTCAAGATAATTTCCTATCTGAAATCTAATTGTGTCCTCAAGTAGAATATGAATACCACTTTGAATTACCCCAGATCCATAGACGGCAGCAAAAATGTACAGCCAAATTGGATTCTATTTTAAGTAATTAAGTTATTTCCCTTCACAGGATCTATAATTTGCCTTGAACAAATGTGATTTGCCTCAGAAAGATAAGGCATTGCAATTTTTCCTCCAAAATGGATTTTCTGTGCCAGAAACAATTAC... | pathogenic | 42,865 |
A genetic variant on chromosome 2, position 136114975, affects the gene CXCR4 (C-X-C motif chemokine receptor 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Warts,_hypogammaglobulinemia,_infections,_and_myelokathexis'] | TGAGAGAGTGCATGTAAAACTATGCTTAAATGAAGGGTGATCCAATTAGGCTTCTCAGGGAAAACCAAGAAACCTCAAGATAATTTCCTATCTGAAATCTAATTGTGTCCTCAAGTAGAATATGAATACCACTTTGAATTACCCCAGATCCATAGACGGCAGCAAAAATGTACAGCCAAATTGGATTCTATTTTAAGTAATTAAGTTATTTCCCTTCACAGGATCTATAATTTGCCTTGAACAAATGTGATTTGCCTCAGAAAGATAAGGCATTGCAATTTTTCCTCCAAAATGGATTTTCTGTGCCAGAAACAATTACT... | TGAGAGAGTGCATGTAAAACTATGCTTAAATGAAGGGTGATCCAATTAGGCTTCTCAGGGAAAACCAAGAAACCTCAAGATAATTTCCTATCTGAAATCTAATTGTGTCCTCAAGTAGAATATGAATACCACTTTGAATTACCCCAGATCCATAGACGGCAGCAAAAATGTACAGCCAAATTGGATTCTATTTTAAGTAATTAAGTTATTTCCCTTCACAGGATCTATAATTTGCCTTGAACAAATGTGATTTGCCTCAGAAAGATAAGGCATTGCAATTTTTCCTCCAAAATGGATTTTCTGTGCCAGAAACAATTACT... | pathogenic | 42,866 |
A genetic variant at chromosome 2, position 142918694, affecting gene KYNU (kynureninase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_2'] | GACAGTATGGATTAAGAGGAAGAAATTGAGACACCTTACCCCCCTTTTCCTCCCTCTAATAAGATCAGGCTAAATTCAATGCAGGAAGACTTTCCAGGGAATAAGAAGCAAAGGCACTAAAAGAAAGAGTTGGAAAACAATACCTACAAGAAGAGTGAACTGCGGTCTTGAAGCATTGTGACTTAACCAAAATTTTGGGATTTACTAACAGGACATGTGTTAATCAAGCAGTTCACTTTGAAAAGGAAAGTTCTAGTAAGCTCCACGGCCTTTGTGAAAAGGCCATTGAAGTGAGAGAGAAAACCAAGAGGACCATTGAG... | GACAGTATGGATTAAGAGGAAGAAATTGAGACACCTTACCCCCCTTTTCCTCCCTCTAATAAGATCAGGCTAAATTCAATGCAGGAAGACTTTCCAGGGAATAAGAAGCAAAGGCACTAAAAGAAAGAGTTGGAAAACAATACCTACAAGAAGAGTGAACTGCGGTCTTGAAGCATTGTGACTTAACCAAAATTTTGGGATTTACTAACAGGACATGTGTTAATCAAGCAGTTCACTTTGAAAAGGAAAGTTCTAGTAAGCTCCACGGCCTTTGTGAAAAGGCCATTGAAGTGAGAGAGAAAACCAAGAGGACCATTGAG... | pathogenic | 42,905 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 143040429, gene KYNU (kynureninase): what disease(s) if pathogenic? | pathogenic; ['Congenital_NAD_deficiency_disorder', 'Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_2'] | TCTTGTCCCTTGACCCAAAACTTGGCAGTGTTCCCTTGAGTCTTCATTATGCCAAGTCTACCTACATTTGCTTTGCCCAAGAAAATGAAGGAGATGCCTCCTACCAAGTTCTGTGTAACCTGGGTCATCTGAATCTTGGAGCACTATTATTTGTACTGCAGATCTCTCTCGGGAGCTTATGAAGCCAAGATATCAGCCTCTACTTGAGCTGTCTCTGTAGACTTCAGACATTGTCTGGGAGTTGTGGTTGAAGAGAGAGACAGGCACCATTCTGTCCTGTTTTTCCTCTCTTGCTTAGATATCATTTACCTTCAGTACAG... | TCTTGTCCCTTGACCCAAAACTTGGCAGTGTTCCCTTGAGTCTTCATTATGCCAAGTCTACCTACATTTGCTTTGCCCAAGAAAATGAAGGAGATGCCTCCTACCAAGTTCTGTGTAACCTGGGTCATCTGAATCTTGGAGCACTATTATTTGTACTGCAGATCTCTCTCGGGAGCTTATGAAGCCAAGATATCAGCCTCTACTTGAGCTGTCTCTGTAGACTTCAGACATTGTCTGGGAGTTGTGGTTGAAGAGAGAGACAGGCACCATTCTGTCCTGTTTTTCCTCTCTTGCTTAGATATCATTTACCTTCAGTACAG... | pathogenic | 42,913 |
Is the genetic variant on chromosome 2, position 144389923, gene ZEB2 (zinc finger E-box binding homeobox 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mowat-Wilson_syndrome'] | TTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGT... | TTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGT... | pathogenic | 42,930 |
The mutation in gene ZEB2 (zinc finger E-box binding homeobox 2) at chromosome 2, position 144390000—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mowat-Wilson_syndrome'] | TGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCGTATCAAAAGTTCCCAAATTTGGAATTTCCAGTAATTGGAAAAAAACAAAA... | TGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCGTATCAAAAGTTCCCAAATTTGGAATTTCCAGTAATTGGAAAAAAACAAAA... | pathogenic | 42,934 |
Variant chromosome 2, position 144396447, gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? Disease(s)? | pathogenic; ['Mowat-Wilson_syndrome', 'ZEB2-related_disorder'] | GTAAATGATAGAGTTTGCATATGGTCATATAATAAAACCAATCAGAGAGGGAAAGATGCCTTCAGTGATGTGCCTATTGTAGCTGAATAATGGAATACAAAATATATTTAAGGTTGATTAAAATATTAAAATTAAAGTAAAATTTAGGTATGAAAATATCTTTACTTTGTAAATGCTTAAGTAGCACTTAGTACTAAAGAAAATATCTACACTAAAAGAAAATTTTGATGTTTCAAACATTGAATTATATAACACAAGTATAAAAGCTGTTTGGATTTAGATTGGGTTGTCTTTAAGGTATCATTAAACTTTTAAAATAA... | GTAAATGATAGAGTTTGCATATGGTCATATAATAAAACCAATCAGAGAGGGAAAGATGCCTTCAGTGATGTGCCTATTGTAGCTGAATAATGGAATACAAAATATATTTAAGGTTGATTAAAATATTAAAATTAAAGTAAAATTTAGGTATGAAAATATCTTTACTTTGTAAATGCTTAAGTAGCACTTAGTACTAAAGAAAATATCTACACTAAAAGAAAATTTTGATGTTTCAAACATTGAATTATATAACACAAGTATAAAAGCTGTTTGGATTTAGATTGGGTTGTCTTTAAGGTATCATTAAACTTTTAAAATAA... | pathogenic | 42,939 |
Does the genetic variant at chromosome 2, position 144396491, impacting gene ZEB2 (zinc finger E-box binding homeobox 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Mowat-Wilson_syndrome'] | GAGAGGGAAAGATGCCTTCAGTGATGTGCCTATTGTAGCTGAATAATGGAATACAAAATATATTTAAGGTTGATTAAAATATTAAAATTAAAGTAAAATTTAGGTATGAAAATATCTTTACTTTGTAAATGCTTAAGTAGCACTTAGTACTAAAGAAAATATCTACACTAAAAGAAAATTTTGATGTTTCAAACATTGAATTATATAACACAAGTATAAAAGCTGTTTGGATTTAGATTGGGTTGTCTTTAAGGTATCATTAAACTTTTAAAATAATAACAATGAATATCAGACAGCTAAAGAAAAAGAAAACTGTATTG... | GAGAGGGAAAGATGCCTTCAGTGATGTGCCTATTGTAGCTGAATAATGGAATACAAAATATATTTAAGGTTGATTAAAATATTAAAATTAAAGTAAAATTTAGGTATGAAAATATCTTTACTTTGTAAATGCTTAAGTAGCACTTAGTACTAAAGAAAATATCTACACTAAAAGAAAATTTTGATGTTTCAAACATTGAATTATATAACACAAGTATAAAAGCTGTTTGGATTTAGATTGGGTTGTCTTTAAGGTATCATTAAACTTTTAAAATAATAACAATGAATATCAGACAGCTAAAGAAAAAGAAAACTGTATTG... | pathogenic | 42,940 |
Does the variant impacting ZEB2 (zinc finger E-box binding homeobox 2) on chromosome 2, position 144398330, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Mowat-Wilson_syndrome'] | AGCATTATTTCTTCCTTGTTGAAGGTATCAGCATATGTTACATCTTATGTTGCACAAGTGTGCTCATTAAATATTATGAAATGTACAGCAGGACGGGAAGCTCTAACCAGTTAGGCAAAGTCACTCATACCTGTGTGTTCGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAG... | AGCATTATTTCTTCCTTGTTGAAGGTATCAGCATATGTTACATCTTATGTTGCACAAGTGTGCTCATTAAATATTATGAAATGTACAGCAGGACGGGAAGCTCTAACCAGTTAGGCAAAGTCACTCATACCTGTGTGTTCGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAG... | pathogenic | 42,949 |
Chromosome 2, position 144398468, gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mowat-Wilson_syndrome'] | TCGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAGAATCACACAGTTCAATACAGTGGCTTCTCTTTGTGCTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATG... | TCGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAGAATCACACAGTTCAATACAGTGGCTTCTCTTTGTGCTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATG... | pathogenic | 42,954 |
A mutation at chromosome position 144398469 on chromosome 2 in gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Mowat-Wilson_syndrome'] | CGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAGAATCACACAGTTCAATACAGTGGCTTCTCTTTGTGCTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATGA... | CGTATTTATGTCGCAGAAGGGAACTGCTTTTCTGGAATGTCTTGTCACATAAGTCACATGCATACATGCCACTCTCTGTCTTCTTGATCTTTTTGCGAGACAGACAGGAGTCGGAGTCTGTCATATCATCTAGGCCTGACATGTAGTCTTGTGCTCCATCAAGCAATTCTCCCTGCGATAGAATCACACAGTTCAATACAGTGGCTTCTCTTTGTGCTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATGA... | pathogenic | 42,955 |
Evaluate the clinical significance of the mutation at chromosome 2, position 144398685 in gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mowat-Wilson_syndrome'] | CTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATGAGGTCTCAATATGCAGTATATGCAACAATATACGCAACAAAAATATAAACTTCTCTGCCCTGGAAGGTAGATCTCACTGTTTTTTAAGGACAGGAAATGGTCAACTCTGAAGGTGAGAGAAACAAATTTTTCTAAAATCCTTCATTTCCTTTATACCAAGAAATACCCATAAGTGAAAATTTAACATTGAAATTTGTGTATTTTCCAGTATGCTTAA... | CTCACACCAAACAACTTCACATAGGGGGACATTTGGAGAACCTCAAAATTGCTTGCTACTAATTGATTGAGTTAAACATTTTTTTTTCCATGAACAATATATGAGGTCTCAATATGCAGTATATGCAACAATATACGCAACAAAAATATAAACTTCTCTGCCCTGGAAGGTAGATCTCACTGTTTTTTAAGGACAGGAAATGGTCAACTCTGAAGGTGAGAGAAACAAATTTTTCTAAAATCCTTCATTTCCTTTATACCAAGAAATACCCATAAGTGAAAATTTAACATTGAAATTTGTGTATTTTCCAGTATGCTTAA... | pathogenic | 42,964 |
A genetic alteration at chromosome 2, position 144398829, in gene ZEB2 (zinc finger E-box binding homeobox 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mowat-Wilson_syndrome'] | AATATAAACTTCTCTGCCCTGGAAGGTAGATCTCACTGTTTTTTAAGGACAGGAAATGGTCAACTCTGAAGGTGAGAGAAACAAATTTTTCTAAAATCCTTCATTTCCTTTATACCAAGAAATACCCATAAGTGAAAATTTAACATTGAAATTTGTGTATTTTCCAGTATGCTTAACTTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAA... | AATATAAACTTCTCTGCCCTGGAAGGTAGATCTCACTGTTTTTTAAGGACAGGAAATGGTCAACTCTGAAGGTGAGAGAAACAAATTTTTCTAAAATCCTTCATTTCCTTTATACCAAGAAATACCCATAAGTGAAAATTTAACATTGAAATTTGTGTATTTTCCAGTATGCTTAACTTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAA... | pathogenic | 42,968 |
The chromosome 2, position 144398981 genetic variant in gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTGTGTATTTTCCAGTATGCTTAACTTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATA... | TTGTGTATTTTCCAGTATGCTTAACTTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATA... | benign | 42,976 |
A genetic variant on chromosome 2, position 144399006, affects the gene ZEB2 (zinc finger E-box binding homeobox 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mowat-Wilson_syndrome'] | TTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATAACATACATTTCCATTTGCTAGCCCA... | TTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATAACATACATTTCCATTTGCTAGCCCA... | pathogenic | 42,980 |
Benign or pathogenic: chromosome 2, position 144399006, gene ZEB2 (zinc finger E-box binding homeobox 2) variant? Disease(s) if pathogenic? | pathogenic; ['Mowat-Wilson_syndrome'] | TTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATAACATACATTTCCATTTGCTAGCCCA... | TTTAGAAATGATCTGTAGCTGTAGAAACCCGATTTTAATTGAATTTTATATTTAGGTACAAAATGTTATTATTATGCAATCTATTTAAATGTATGTCTACCAACTAAAGGCCTCAAGCTATATTTTTATATTTAATTTTCTAATTTGAAATAGGGAATATTAATAACACTTTTTATCAATGTTCTATGTTAAAACAGCCTTCAGCATTGAACATTAATGAATGTGGATCAGTAAATTATTAAATTTCTTGATATTTATTTTGTCTTGATCCAAAGGAGTGCAAACTTGCATGATAACATACATTTCCATTTGCTAGCCCA... | pathogenic | 42,981 |
Determine whether the variant at chromosome 2, position 144399760, in gene ZEB2 (zinc finger E-box binding homeobox 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Mowat-Wilson_syndrome'] | CTCAGTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGCACCCAGCACTACACCCAGCTAATTTTTGTATTTTTAGGACAGATGGTGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCTCGTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACACCTGTCCTGTGTACATCTTTAAAAGCACGTGACGGTTATAAACTTTAACTTCTAGCACCTAGGTAAGTCCTACCAAATATTTTCACCAAAGTTTAATT... | CTCAGTGCAACCTCAGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGCACCCAGCACTACACCCAGCTAATTTTTGTATTTTTAGGACAGATGGTGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCTCGTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACACCTGTCCTGTGTACATCTTTAAAAGCACGTGACGGTTATAAACTTTAACTTCTAGCACCTAGGTAAGTCCTACCAAATATTTTCACCAAAGTTTAATT... | pathogenic | 43,013 |
Determine whether the variant at chromosome 2, position 144399799, in gene ZEB2 (zinc finger E-box binding homeobox 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Mowat-Wilson_syndrome'] | CTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGCACCCAGCACTACACCCAGCTAATTTTTGTATTTTTAGGACAGATGGTGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCTCGTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACACCTGTCCTGTGTACATCTTTAAAAGCACGTGACGGTTATAAACTTTAACTTCTAGCACCTAGGTAAGTCCTACCAAATATTTTCACCAAAGTTTAATTTTAAAAGCAGATGAGTCCATCTAAATACATCTCAAAATA... | CTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGCACCCAGCACTACACCCAGCTAATTTTTGTATTTTTAGGACAGATGGTGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCTCGTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACACCTGTCCTGTGTACATCTTTAAAAGCACGTGACGGTTATAAACTTTAACTTCTAGCACCTAGGTAAGTCCTACCAAATATTTTCACCAAAGTTTAATTTTAAAAGCAGATGAGTCCATCTAAATACATCTCAAAATA... | pathogenic | 43,015 |
Determine whether the variant at chromosome 2, position 144400134, in gene ZEB2 (zinc finger E-box binding homeobox 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Mowat-Wilson_syndrome'] | TTTATCCTTTTTGTTTTTAAAGCAAATGTGCTTAGAGTACAGTGATCCACTGTTTCATCCATTGTTCTAGCCCACTGATGGTTTTAGGTTCATGTTAAAGCAAACTCTTCTGTTTCTGCTGAGTTTTTTCACTAAGATTTTTTTTTCCTACATGCACATAATCAAAATAATTGCCACCTCTTTTCTTCATAGCAGAAAAACATTTGTCTCTTTACCTGAAATCCTTGTTTCCGCTGGTACTTTCTCCTTTGCTGCATATCAGCAAAAGTAGCTGCTCCAGTTGGGTAGGTGTAGGCCATATGTGGTAGGAAGCTCATCTG... | TTTATCCTTTTTGTTTTTAAAGCAAATGTGCTTAGAGTACAGTGATCCACTGTTTCATCCATTGTTCTAGCCCACTGATGGTTTTAGGTTCATGTTAAAGCAAACTCTTCTGTTTCTGCTGAGTTTTTTCACTAAGATTTTTTTTTCCTACATGCACATAATCAAAATAATTGCCACCTCTTTTCTTCATAGCAGAAAAACATTTGTCTCTTTACCTGAAATCCTTGTTTCCGCTGGTACTTTCTCCTTTGCTGCATATCAGCAAAAGTAGCTGCTCCAGTTGGGTAGGTGTAGGCCATATGTGGTAGGAAGCTCATCTG... | pathogenic | 43,023 |
Regarding the variant at chromosome 2 and position 144401238, affecting gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mowat-Wilson_syndrome'] | TTCATAGCATAGTATGCTTTGAGTACAGACATGTGGTCCTTGTATGGGTTGATGGGGCTTGTCATTCCTTTCTCAGAAAGTACAGATGACAAGAGGAGGGCTTTATTATCAACAAAAACTCCGGCTTTGTTGGGGACTATGTTTTCATGAGGCTGCAGGACCGCCTTGATCTCTTCATTCATCTTACAAAGGTAACGTTCATGCTGATGCAAAGGGATGGGGCCAGGAAAACTTTCTTTACAGAACTGGCATGAAAATGGAGTGGATATGTTGTGGTTCTCAATCATTTTGTCATCAGTGACCAAATCTATTAAAGTACG... | TTCATAGCATAGTATGCTTTGAGTACAGACATGTGGTCCTTGTATGGGTTGATGGGGCTTGTCATTCCTTTCTCAGAAAGTACAGATGACAAGAGGAGGGCTTTATTATCAACAAAAACTCCGGCTTTGTTGGGGACTATGTTTTCATGAGGCTGCAGGACCGCCTTGATCTCTTCATTCATCTTACAAAGGTAACGTTCATGCTGATGCAAAGGGATGGGGCCAGGAAAACTTTCTTTACAGAACTGGCATGAAAATGGAGTGGATATGTTGTGGTTCTCAATCATTTTGTCATCAGTGACCAAATCTATTAAAGTACG... | pathogenic | 43,033 |
Variant on chromosome 2, at position 144401256, affecting ZEB2 (zinc finger E-box binding homeobox 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mowat-Wilson_syndrome'] | TTGAGTACAGACATGTGGTCCTTGTATGGGTTGATGGGGCTTGTCATTCCTTTCTCAGAAAGTACAGATGACAAGAGGAGGGCTTTATTATCAACAAAAACTCCGGCTTTGTTGGGGACTATGTTTTCATGAGGCTGCAGGACCGCCTTGATCTCTTCATTCATCTTACAAAGGTAACGTTCATGCTGATGCAAAGGGATGGGGCCAGGAAAACTTTCTTTACAGAACTGGCATGAAAATGGAGTGGATATGTTGTGGTTCTCAATCATTTTGTCATCAGTGACCAAATCTATTAAAGTACGTAGCTTCTCTTTCTTTAT... | TTGAGTACAGACATGTGGTCCTTGTATGGGTTGATGGGGCTTGTCATTCCTTTCTCAGAAAGTACAGATGACAAGAGGAGGGCTTTATTATCAACAAAAACTCCGGCTTTGTTGGGGACTATGTTTTCATGAGGCTGCAGGACCGCCTTGATCTCTTCATTCATCTTACAAAGGTAACGTTCATGCTGATGCAAAGGGATGGGGCCAGGAAAACTTTCTTTACAGAACTGGCATGAAAATGGAGTGGATATGTTGTGGTTCTCAATCATTTTGTCATCAGTGACCAAATCTATTAAAGTACGTAGCTTCTCTTTCTTTAT... | pathogenic | 43,034 |
Considering the genetic mutation at chromosome 2, position 144404063, impacting ZEB2 (zinc finger E-box binding homeobox 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mowat-Wilson_syndrome'] | AGTTTTATCACAGGCCAGTAGGAAAGACTTCAACGACTTTTCATTTTCCTTTTTAGTAGTGTGCTAGGGAGTAGGGACAAAAAAGGAAAAAAAGTTTCCTGAAAAGACAAGTTAAAAGCAGCAAAGATATAATCAAACACAGCTGACCTTTTTGAACAAGGGGAAAAAAGCAGTGTGACTTAGAATTCTGGAAAAAAAATGCAGTCATCCACTCTGGATGCTCAAGGTAGGAGGTCAGCCTTTTTCTAGCAGCAATGACACAAAAGCCTTTTGCAAAAAGACAGCACAGAAACGGTATGACAACTGCTAGGGTGTGCTGA... | AGTTTTATCACAGGCCAGTAGGAAAGACTTCAACGACTTTTCATTTTCCTTTTTAGTAGTGTGCTAGGGAGTAGGGACAAAAAAGGAAAAAAAGTTTCCTGAAAAGACAAGTTAAAAGCAGCAAAGATATAATCAAACACAGCTGACCTTTTTGAACAAGGGGAAAAAAGCAGTGTGACTTAGAATTCTGGAAAAAAAATGCAGTCATCCACTCTGGATGCTCAAGGTAGGAGGTCAGCCTTTTTCTAGCAGCAATGACACAAAAGCCTTTTGCAAAAAGACAGCACAGAAACGGTATGACAACTGCTAGGGTGTGCTGA... | pathogenic | 43,052 |
Regarding the variant found on chromosome 2 at position 144404147 in gene ZEB2 (zinc finger E-box binding homeobox 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GGAAAAAAAGTTTCCTGAAAAGACAAGTTAAAAGCAGCAAAGATATAATCAAACACAGCTGACCTTTTTGAACAAGGGGAAAAAAGCAGTGTGACTTAGAATTCTGGAAAAAAAATGCAGTCATCCACTCTGGATGCTCAAGGTAGGAGGTCAGCCTTTTTCTAGCAGCAATGACACAAAAGCCTTTTGCAAAAAGACAGCACAGAAACGGTATGACAACTGCTAGGGTGTGCTGAATCTTCCCACATTCCTAGTGAGACAGATGGTGTTACATGGGACACAGGGAGGTTTGTTCAAACAGCAGCAACCTTCAAAGATCA... | GGAAAAAAAGTTTCCTGAAAAGACAAGTTAAAAGCAGCAAAGATATAATCAAACACAGCTGACCTTTTTGAACAAGGGGAAAAAAGCAGTGTGACTTAGAATTCTGGAAAAAAAATGCAGTCATCCACTCTGGATGCTCAAGGTAGGAGGTCAGCCTTTTTCTAGCAGCAATGACACAAAAGCCTTTTGCAAAAAGACAGCACAGAAACGGTATGACAACTGCTAGGGTGTGCTGAATCTTCCCACATTCCTAGTGAGACAGATGGTGTTACATGGGACACAGGGAGGTTTGTTCAAACAGCAGCAACCTTCAAAGATCA... | benign | 43,057 |
Is the genetic variant on chromosome 2, position 144429810, gene ZEB2 (zinc finger E-box binding homeobox 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mowat-Wilson_syndrome'] | GCCAAATGAGATTAGGGATTTACATTTTATTTAATTATTGTGACTCCAGAATGCTGGTTTATTTACCATAAAGGTAAGAGCAAAGAACAGCCTGTTCACTTGTATCACAGGCACCATTAACTACAGGTGATAACAGGGTCTGCAATGCATTCATATGGATTACTGTATATTAAAACGTTTAGAATTATGATCCATGACCAACACAAAAAGCTGCCACAATCACAAACTACTACAGCTTGACATTGCTGTTTGGCTGTTTTTCAACTATTGATATTAAATTTTTTAAATTAAACTTTTTTAAAAGAGGTTTGGGGCTGTAC... | GCCAAATGAGATTAGGGATTTACATTTTATTTAATTATTGTGACTCCAGAATGCTGGTTTATTTACCATAAAGGTAAGAGCAAAGAACAGCCTGTTCACTTGTATCACAGGCACCATTAACTACAGGTGATAACAGGGTCTGCAATGCATTCATATGGATTACTGTATATTAAAACGTTTAGAATTATGATCCATGACCAACACAAAAAGCTGCCACAATCACAAACTACTACAGCTTGACATTGCTGTTTGGCTGTTTTTCAACTATTGATATTAAATTTTTTAAATTAAACTTTTTTAAAAGAGGTTTGGGGCTGTAC... | pathogenic | 43,077 |
Clinically, how would you classify the variant at chromosome 2, position 144430044, gene ZEB2 (zinc finger E-box binding homeobox 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GCTTGACATTGCTGTTTGGCTGTTTTTCAACTATTGATATTAAATTTTTTAAATTAAACTTTTTTAAAAGAGGTTTGGGGCTGTACATTTGTTACATTGTTATTAATTATTCTTCTAAGGGTGGAAATTCTAGTAATTGGTCCTTACCCTTGATTTCTAGATATTAAAATTTAAAGCATCAGAACATTCATTCTTATAGCCCTGCATATCTAGTTCATTAACAAATATGAATAGCTAACACCAGCTCATTTAAATAGTATGTCTTACATGAGTTCTCGCCACACTCTGTTTCTGTCACACTGCTCCCAAGAATCATTGGC... | GCTTGACATTGCTGTTTGGCTGTTTTTCAACTATTGATATTAAATTTTTTAAATTAAACTTTTTTAAAAGAGGTTTGGGGCTGTACATTTGTTACATTGTTATTAATTATTCTTCTAAGGGTGGAAATTCTAGTAATTGGTCCTTACCCTTGATTTCTAGATATTAAAATTTAAAGCATCAGAACATTCATTCTTATAGCCCTGCATATCTAGTTCATTAACAAATATGAATAGCTAACACCAGCTCATTTAAATAGTATGTCTTACATGAGTTCTCGCCACACTCTGTTTCTGTCACACTGCTCCCAAGAATCATTGGC... | benign | 43,086 |
Determine if the mutation at chromosome 2, position 147943530 in gene ORC4 (origin recognition complex subunit 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTAGATTGGCAAGAAAAAAAAAGTTTAATTGTAGTATTTCTCTGGTTACTGGAGAGGCTGAAAATCTGTAATCTATAATGAGCTTCCACAGTAAGACAATGACAACAAATAATGGGATGAGCTAAGAATATGAGTAAGCAGCCCTCAAAGTAGAATCCCATATGACAAAAAACAAGCCATTATTTAATTCATTACCATGAATTAAAAATGTAATAGAAAAATGGCAGAACAATGGCCGTTAATATTGACAATACTGAGGCAGAGATATTTTCCCAGATGGAGATGTGTGTGTATATATATATACATACACACATACACAC... | CTAGATTGGCAAGAAAAAAAAAGTTTAATTGTAGTATTTCTCTGGTTACTGGAGAGGCTGAAAATCTGTAATCTATAATGAGCTTCCACAGTAAGACAATGACAACAAATAATGGGATGAGCTAAGAATATGAGTAAGCAGCCCTCAAAGTAGAATCCCATATGACAAAAAACAAGCCATTATTTAATTCATTACCATGAATTAAAAATGTAATAGAAAAATGGCAGAACAATGGCCGTTAATATTGACAATACTGAGGCAGAGATATTTTCCCAGATGGAGATGTGTGTGTATATATATATACATACACACATACACAC... | benign | 43,095 |
Is the variant located on chromosome 2 at position 147975979, gene ORC4 (origin recognition complex subunit 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAAAAAGATGGACCATTAAAGTCGTTCCTTTTTTGGATCTGCAGCTAATACAGAGGTCTTTCAAGGACAACAACCTGAGGGTGCTATCTCAGATTTGGCCCCATGAACTGGAATAAAAAGGCTCCAAGAATATTTGCTTCTCCTAGACTGACAGCATGGAACTAATCCTTCATGTACCAAAGAAGTAAATCTGAGTTCTTGTTCCATGTACAGAGGCAAAGCAAAGAAAATGATTCATTAGGGACAAAACAATACATACTTGTTCATTATCGAGGAAGTTAAAGAGTAAGGACATTGGCTCCAGAAGAGTCTATTATATG... | TAAAAAGATGGACCATTAAAGTCGTTCCTTTTTTGGATCTGCAGCTAATACAGAGGTCTTTCAAGGACAACAACCTGAGGGTGCTATCTCAGATTTGGCCCCATGAACTGGAATAAAAAGGCTCCAAGAATATTTGCTTCTCCTAGACTGACAGCATGGAACTAATCCTTCATGTACCAAAGAAGTAAATCTGAGTTCTTGTTCCATGTACAGAGGCAAAGCAAAGAAAATGATTCATTAGGGACAAAACAATACATACTTGTTCATTATCGAGGAAGTTAAAGAGTAAGGACATTGGCTCCAGAAGAGTCTATTATATG... | benign | 43,103 |
Determine whether the variant at chromosome 2, position 148483088, in gene MBD5 (methyl-CpG binding domain protein 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGACTTTTCCATATTTCAGAACTTTTGCTTCCCTTTTTTTGATTCTCAAAATAATCATGCCAATTACGAAATTTTTTCTAAGGAAAAAGTTCAAAGGTAGCAAATATCACATGTAGAAAGATATTTATCCCTGTATTATCTATAATGATGAGAAATCAAAATATGAATACCAGGCTTTATCAGAGTGGTTCAATAAATATAGTAAATACATACACTACACAGTTAAAATATAAATACGAAGTCTATTTATCAGAAAGGAAAAATCCTTGTGTTATTCTATTAGGTGAAAACAAGAAGAATATAAAATTATATTCATATTA... | AGACTTTTCCATATTTCAGAACTTTTGCTTCCCTTTTTTTGATTCTCAAAATAATCATGCCAATTACGAAATTTTTTCTAAGGAAAAAGTTCAAAGGTAGCAAATATCACATGTAGAAAGATATTTATCCCTGTATTATCTATAATGATGAGAAATCAAAATATGAATACCAGGCTTTATCAGAGTGGTTCAATAAATATAGTAAATACATACACTACACAGTTAAAATATAAATACGAAGTCTATTTATCAGAAAGGAAAAATCCTTGTGTTATTCTATTAGGTGAAAACAAGAAGAATATAAAATTATATTCATATTA... | benign | 43,174 |
Variant in gene KIF5C (kinesin family member 5C), located at chromosome 2 position 148929327: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Complex_cortical_dysplasia_with_other_brain_malformations_2'] | AGCTGTTTCCTTGGGTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGC... | AGCTGTTTCCTTGGGTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGC... | pathogenic | 43,266 |
Variant chromosome 2, position 149576495, gene MMADHC (metabolism of cobalamin associated D): benign or pathogenic? Disease(s)? | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblD'] | AAAGACCATACATCTAATCCCAAATATAAAATACTTCCTAACATCCTACACAGGAATCACTAAAGGGATTTTTTAACTCAAGTTAGTGACTTGGGCCCCTTAGCTAACCTGAGTTGGAAAGAACTGCTAACACCCAGGGTAAGCTAGCATGACAGCTTATATACTAGAACAGTCTTTTTGATGGGCAAATTGGAAGTGTCTTATCAAAATTTAAAATGTAGATACACACTGATTCAGCAATTCTCTATTTAGGAATCTATAGATATTAGCATGCATAAAAGTATTTGTAAAAAGACTGTCACTGCTTGTTGCCTATAATA... | AAAGACCATACATCTAATCCCAAATATAAAATACTTCCTAACATCCTACACAGGAATCACTAAAGGGATTTTTTAACTCAAGTTAGTGACTTGGGCCCCTTAGCTAACCTGAGTTGGAAAGAACTGCTAACACCCAGGGTAAGCTAGCATGACAGCTTATATACTAGAACAGTCTTTTTGATGGGCAAATTGGAAGTGTCTTATCAAAATTTAAAATGTAGATACACACTGATTCAGCAATTCTCTATTTAGGAATCTATAGATATTAGCATGCATAAAAGTATTTGTAAAAAGACTGTCACTGCTTGTTGCCTATAATA... | pathogenic | 43,341 |
The chromosome 2, position 149582151 genetic variant in gene MMADHC (metabolism of cobalamin associated D): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblD'] | TGACCTCTGAGGTCCACCTCAGCCTCCCAAGTAGCTGGGATCACTGGTGCACACCACTATGCCCAGCTAATTTTGTTTATTTTTGGTAGACACAAGGTCTCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCAGGCCCATGTTTTTAAGTAAAGAGAAGATCTAAAATGAAACTTAGTAATGGTCGTCTGGGGAGGGGCATTCTGCTGCTGTTATCTGGTGGCACAAAATACGAACGGGAAAAAAAATCATGCATCACATGACCTAATGCTCTGTTTACCAGCCACATGAGTTAATAT... | TGACCTCTGAGGTCCACCTCAGCCTCCCAAGTAGCTGGGATCACTGGTGCACACCACTATGCCCAGCTAATTTTGTTTATTTTTGGTAGACACAAGGTCTCCTCCTCCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCAGGCCCATGTTTTTAAGTAAAGAGAAGATCTAAAATGAAACTTAGTAATGGTCGTCTGGGGAGGGGCATTCTGCTGCTGTTATCTGGTGGCACAAAATACGAACGGGAAAAAAAATCATGCATCACATGACCTAATGCTCTGTTTACCAGCCACATGAGTTAATAT... | pathogenic | 43,347 |
Is the genetic mutation found on chromosome 2 at position 151485949, within the gene NEB, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTCGTTCCCCACTGTGTGGAAAAATTGTCTTCCACAAAACTGGTCCCTAGTGCCAAAAAGGCTGGGGACCTGTGCTTTAAATCATCTCTTGATTATAATACCTAATATAATGTAAATGTATGTAAATATGTTATACTGTATTGTTTAAGGACTAATCACAAGAAGAAAGTCTAGCTGTTCAGTACAGATGTGACCATCTTTTTTTTTCTGAATATTTTTGATTCATGGTTGGTTGAATTTGTGGATGTGGAACTCAAGGATCTTGGAAAGCCAGCTGCATGTTGAACATTTTCCAGGCTTTAAAGAAAAATCTGTAAGA... | TTTCGTTCCCCACTGTGTGGAAAAATTGTCTTCCACAAAACTGGTCCCTAGTGCCAAAAAGGCTGGGGACCTGTGCTTTAAATCATCTCTTGATTATAATACCTAATATAATGTAAATGTATGTAAATATGTTATACTGTATTGTTTAAGGACTAATCACAAGAAGAAAGTCTAGCTGTTCAGTACAGATGTGACCATCTTTTTTTTTCTGAATATTTTTGATTCATGGTTGGTTGAATTTGTGGATGTGGAACTCAAGGATCTTGGAAAGCCAGCTGCATGTTGAACATTTTCCAGGCTTTAAAGAAAAATCTGTAAGA... | benign | 43,364 |
Does the variant impacting NEB on chromosome 2, position 151490376, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGGGAAGGCTTTCCCCTTTATATTTTAAAATAATTGTGGCCGGGCTGAGTGGCTGATGCCTGTAATCCCAGCATTTTAGGAGGCCAAAGCAGGCAGAGGGCTTGAGCCTAGGGGTTTGAGACCAGCCTGGGCAACATAGTGAGCCTCTACCAAAAAAAAAAAAAAAAAAATTAGCCTAGAATGGCATATACACCTGTAGTCCTAGCTATTCTGGTGGCTGAGGCTGGAGGATTGCTTGAGTCCATGAAGTCGAGACTGCAGCGAGCTGTGATCATGCCACCACACTGCAGCCTGGGTGATAGAGTGAGACCCTGTCTCTA... | TGGGAAGGCTTTCCCCTTTATATTTTAAAATAATTGTGGCCGGGCTGAGTGGCTGATGCCTGTAATCCCAGCATTTTAGGAGGCCAAAGCAGGCAGAGGGCTTGAGCCTAGGGGTTTGAGACCAGCCTGGGCAACATAGTGAGCCTCTACCAAAAAAAAAAAAAAAAAAATTAGCCTAGAATGGCATATACACCTGTAGTCCTAGCTATTCTGGTGGCTGAGGCTGGAGGATTGCTTGAGTCCATGAAGTCGAGACTGCAGCGAGCTGTGATCATGCCACCACACTGCAGCCTGGGTGATAGAGTGAGACCCTGTCTCTA... | pathogenic | 43,371 |
The chromosome 2, position 151491690 genetic variant in gene NEB: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CTGCATCAGCGTCCCAAAGTGCTGGCATTATAGGCATGATTCACTATGCCCAGCAAATGTTTAAGATAGTAGGTGAGACCAATGAGCCAAAACTGATGCTTTGCTCTAGGTTTGGGTTTTTTTTTTAAGTTATTGAATAATGCTTTTCATTAATTTGAGTTAGATAATGAAAGTTTTCTGATATCATTAATATGAAACATGTAATAAAAGAGCATTATATAAAATAGAAGGTTTGGTTAAAAAAAACCGTAATACCTAATACTTATAATCATGTTTGCACATATCAAAAATTAAGAATAATTTATTTAAGTGAGTTGTTA... | CTGCATCAGCGTCCCAAAGTGCTGGCATTATAGGCATGATTCACTATGCCCAGCAAATGTTTAAGATAGTAGGTGAGACCAATGAGCCAAAACTGATGCTTTGCTCTAGGTTTGGGTTTTTTTTTTAAGTTATTGAATAATGCTTTTCATTAATTTGAGTTAGATAATGAAAGTTTTCTGATATCATTAATATGAAACATGTAATAAAAGAGCATTATATAAAATAGAAGGTTTGGTTAAAAAAAACCGTAATACCTAATACTTATAATCATGTTTGCACATATCAAAAATTAAGAATAATTTATTTAAGTGAGTTGTTA... | pathogenic | 43,379 |
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