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 |
|---|---|---|---|---|---|
The genetic variant at chromosome 19, position 41422179, affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | CCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAAT... | CCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAAT... | pathogenic | 305,362 |
Is the genetic variant on chromosome 19, position 41422230, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | AACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGA... | AACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGA... | pathogenic | 305,366 |
Chromosome 19, position 41422257, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maple_syrup_urine_disease'] | TCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAG... | TCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAG... | pathogenic | 305,368 |
Variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), chromosome 19, position 41422290—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Maple_syrup_urine_disease'] | ACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATT... | ACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATT... | pathogenic | 305,372 |
Variant in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located at chromosome 19 position 41422351: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Maple_syrup_urine_disease'] | AGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGA... | AGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGA... | pathogenic | 305,377 |
Classify the chromosome 19 variant at position 41422633 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCT... | TGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCT... | pathogenic | 305,386 |
Variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), chromosome 19, position 41422680—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Maple_syrup_urine_disease'] | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... | pathogenic | 305,391 |
Gene mutation in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) at chromosome 19, position 41422962—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGT... | TTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGT... | benign | 305,406 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 41423003, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): what disease(s) if pathogenic? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAG... | TGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAG... | pathogenic | 305,412 |
Does the variant impacting BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on chromosome 19, position 41423168, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maple_syrup_urine_disease'] | GGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGT... | GGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGT... | pathogenic | 305,421 |
Does the variant on chromosome 19 at location 41424549 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGT... | TCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGT... | pathogenic | 305,435 |
Variant chromosome 19, position 41424578, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Disease(s)? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTC... | TCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTC... | pathogenic | 305,438 |
Mutation at chromosome 19, position 41860143, within RPS19 (ribosomal protein S19): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGTGAAAATGGGACATCTCATTCTTACCTGGAAAGTCTAAGTCACTTTGACACAGAGAAGCAGTCATGATCTCAGAGAAGCGGTTTTTAGAGACAACATTGTACATTTATCTAAACTTTCTAATGTCCAAGGAAGCAGAATCCTGGGTCTGCTCCTCGCCCAGGCATGATGTTAGCTCCGTTGCATAAATACATGCCTGCTTTGCCTTATGTCCATCAAAACTCTGCTTTATATAAATTTTACCTAAGCTTCACTCTTCCCAAAATCCTATATTCACCCTGTCTCTTCCTTTGGTCAGGCACTCCAGAGTTCCTCTGGAG... | AGTGAAAATGGGACATCTCATTCTTACCTGGAAAGTCTAAGTCACTTTGACACAGAGAAGCAGTCATGATCTCAGAGAAGCGGTTTTTAGAGACAACATTGTACATTTATCTAAACTTTCTAATGTCCAAGGAAGCAGAATCCTGGGTCTGCTCCTCGCCCAGGCATGATGTTAGCTCCGTTGCATAAATACATGCCTGCTTTGCCTTATGTCCATCAAAACTCTGCTTTATATAAATTTTACCTAAGCTTCACTCTTCCCAAAATCCTATATTCACCCTGTCTCTTCCTTTGGTCAGGCACTCCAGAGTTCCTCTGGAG... | benign | 305,483 |
Is the genetic change at chromosome 19, position 41860786, within gene RPS19 (ribosomal protein S19) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Diamond-Blackfan_anemia'] | AAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTA... | AAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTA... | pathogenic | 305,491 |
Gene RPS19 (ribosomal protein S19) variant at chromosome 19, position 41869192—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Diamond-Blackfan_anemia'] | TCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCAC... | TCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCAC... | pathogenic | 305,504 |
Assess the variant on chromosome 19, position 41869225, impacting RPS19 (ribosomal protein S19): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAG... | CCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAG... | benign | 305,506 |
Does the chromosome 19 mutation at position 41869382 within gene RPS19 (ribosomal protein S19) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGAT... | CACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCCAGGTAGCTGGGGTTACAGCGGGTGTGCCACCACACCTGGCTAATTTTCTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCTCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCCCATATATTTTAAATCATCTGTAGATTACTTATAGAT... | benign | 305,509 |
Is chromosome 19, position 41869724, gene RPS19 (ribosomal protein S19) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_1'] | ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGT... | ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGT... | pathogenic | 305,510 |
Chromosome 19, position 41869724, gene RPS19 (ribosomal protein S19): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Diamond-Blackfan_anemia'] | ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGT... | ATACTTATAGTCCCAGCTACTTAGGAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGT... | pathogenic | 305,511 |
Chromosome 19, position 41968846, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy_99', 'Dystonia_12'] | TAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGA... | TAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGGA... | pathogenic | 305,571 |
Clinical significance of chromosome 19, position 41969417, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACG... | GTGCGGGGCCCTAACGAGAGGCAGAGTTTCAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACG... | benign | 305,575 |
Clinical classification of chromosome 19, position 41975801, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3): benign or pathogenic? Disease(s) if pathogenic? | benign | TGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAA... | TGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAA... | benign | 305,614 |
The genetic variant at chromosome 19, position 42248909, affecting gene ERF (ETS2 repressor factor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Chitayat_syndrome', 'Craniosynostosis_4', 'ERF-related_disorder', 'Neurodevelopmental_disorder', 'Noonan_Syndrome-like_developmental_disorder', 'TWIST1-related_craniosynostosis'] | CACAGGGCCCTGGGCAAGTCACTTAGCAGCACTGGTTGCCCCTACCTTACTGGATACTGAAGGAGCTACAACACTGCAGCTCTTAAGTATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGT... | CACAGGGCCCTGGGCAAGTCACTTAGCAGCACTGGTTGCCCCTACCTTACTGGATACTGAAGGAGCTACAACACTGCAGCTCTTAAGTATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGT... | pathogenic | 305,710 |
Does the variant impacting ERF (ETS2 repressor factor) on chromosome 19, position 42248996, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGT... | TATTGGACACACAGTAGGTCAACAGCATCGATGACTAGTGAGCCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGT... | benign | 305,712 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 42249038, gene ERF (ETS2 repressor factor): what disease(s) if pathogenic? | pathogenic; ['TWIST1-related_craniosynostosis'] | CCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCC... | CCAGTCCCTTGGCTGTGTGCTGGCTGGGGGTGTTCCCATACCTGGACCTGAAGATCACCAAGTTACCTTGCAAGGTCTACATTTCAAGAGACACCACAGGCTGTTCTCCAAAGGACTCCCAGCTGAACTCAGAGCAACAAGAGAGGGGTGTGGGCAGGGTGCGAGGGGCAGTGCAAAAGGGAGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCC... | pathogenic | 305,714 |
Gene mutation in ERF (ETS2 repressor factor) at chromosome 19, position 42249219—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Chitayat_syndrome', 'Craniosynostosis_4', 'Inborn_genetic_diseases', 'TWIST1-related_craniosynostosis'] | AGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTG... | AGCTCCTGGTCTTCACTGGGGACCTGGGGTGTGGGAAGAATTCCTAGCCACAAGTGGGAAGGCATCCAGGCAATCAGAAGAGCAAGGGCAGTGGGGTTGTGGTGAAAAACAGTGGGAAGAGCTTTCAAGGACAAGGTCCCCATGGAACAGAGGAGCAGTCTGATGAAGCCGGCGCATGCCTGAGACCACTATCATCAAGCTCTGGGGCTCATGTGCCTCTGAGGTCAGGAGACGGTTTCCCAGGCCTGGATTTGGCCCATTCTGATTAGGGTTAGGCCCTCTATACTGATCTGGCCACAGACCCACTAGCAGCCAGGGTG... | pathogenic | 305,717 |
Located at chromosome 19 position 42249544, the variant affecting gene ERF (ETS2 repressor factor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Craniosynostosis_4', 'TWIST1-related_craniosynostosis'] | CCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGG... | CCTCCTTCAGAATCAAGCAAAAGCTGTGGCCCTCAGGGGGCTGCACCGAGCACCTAGGACATTGATCACTGCATCCAAAGGTCCAAAGTTTTATTGTTTTGAATACATTCTCCAGCGGCCCCTCTACTCCCCCCACCCTCAGTCCCCAATACAGAATAAGGCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGG... | pathogenic | 305,725 |
The mutation in gene ERF (ETS2 repressor factor) at chromosome 19, position 42249704—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | GCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAA... | GCTTGACCACAGCCCCCCACCCCACCCCAGAGGCCCCAGCTGGGAGGCAGAGGGGGCTTCCAGTTTGGTTTCAGGGCACCCCCTTCCCATCCCCCCACCCGCCTGCCCATGGGCCAGTCCTAGGAGCAGCTGGGGATGAAGGGGTTGGACCGGTGCTGGGGTGGGGAGTGGGAGAGGGATAGCAGGCACTTGTAGAGATTTGTGGCCCATGGGCGGCACCCCTCACCCTCCTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAA... | pathogenic | 305,728 |
Variant chromosome 19, position 42349479, gene MEGF8 (multiple EGF like domains 8): benign or pathogenic? Disease(s)? | benign | CCTTAGCCTCCCAAGTAGCTGGGATTACAAACATGCACCACCATGCCTGGCTGTTTTTTGTATTTTTTTTGTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCACAGGCTGGAGTGCAATGGCGCAATCTCGGCTCAGTGCAACCTCTGCCTCCCGGGTTTGAACGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAAGTGCACGCTACCACTCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCC... | CCTTAGCCTCCCAAGTAGCTGGGATTACAAACATGCACCACCATGCCTGGCTGTTTTTTGTATTTTTTTTGTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCACAGGCTGGAGTGCAATGGCGCAATCTCGGCTCAGTGCAACCTCTGCCTCCCGGGTTTGAACGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTACAAGTGCACGCTACCACTCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCC... | benign | 305,792 |
A genetic variant at chromosome 19, position 43507952, affecting gene ETHE1 (ETHE1 persulfide dioxygenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ethylmalonic_encephalopathy'] | AAAAAAAATGTAGCCAACATCTACACATGTTGTAAGTGGTAAAATGCAGGCTTCATTCTCTCAAAAGTCCATGTTCTTAACCATTGCGTATACTGTCACTACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTG... | AAAAAAAATGTAGCCAACATCTACACATGTTGTAAGTGGTAAAATGCAGGCTTCATTCTCTCAAAAGTCCATGTTCTTAACCATTGCGTATACTGTCACTACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTG... | pathogenic | 305,930 |
Clinical significance of chromosome 19, position 43508051, gene ETHE1 (ETHE1 persulfide dioxygenase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ethylmalonic_encephalopathy'] | TACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTG... | TACAAGCCAGGAAGTACCCAAAAGATCATTCTAAATGATAGTAACTTTAATGGTGAACACTGATAGGCCATGTGCCAGGCACTCACACACATTGACTCATCAGAGCATCACAACACCCCATTATTATTCCTTCCATTTTAGAGATAAGAAAACTGAGGCCTAGAGAAGTGAAGTAACTTACCCCAGGGCTAAGTGGGAAGTGGCTCAAAAGCAAGCCGGTGTTCTAATCCAAGGTGATGAGAAGACCTGCCCCAGATAGCTGTGTTTGTTTTTGATCTTGTGAGTTAGAAATCTTGTGGGCTCCCGGGCTGGGCGCGGTG... | pathogenic | 305,932 |
A genetic alteration at chromosome 19, position 43511553, in gene ETHE1 (ETHE1 persulfide dioxygenase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ethylmalonic_encephalopathy'] | AAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAAC... | AAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAAC... | pathogenic | 305,953 |
A genetic alteration at chromosome 19, position 43526519, in gene ETHE1 (ETHE1 persulfide dioxygenase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ethylmalonic_encephalopathy'] | CTTTTTGGAGTAATGGAAACATTTTCCAATTAATGGTAGTAATGGATGTACAACTCTGAATATACTAAAAGTCATTGAATTGTGCACTCGAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGC... | CTTTTTGGAGTAATGGAAACATTTTCCAATTAATGGTAGTAATGGATGTACAACTCTGAATATACTAAAAGTCATTGAATTGTGCACTCGAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGC... | pathogenic | 305,964 |
Evaluate this variant at chromosome 19, position 43526608, gene ETHE1 (ETHE1 persulfide dioxygenase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ethylmalonic_encephalopathy'] | GAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAG... | GAAATAGATAAATTATATGGTATGTGGGTTATATCAATAAAGCTATTAAGCCTGGGCAACATAGTGAGATTACAGCTCAACAAAAAATTAAAAAATTAGCCAGGTATGGTGGCAGGTGCTTGTAGTCCCAGCTACTTAGGAGGCTGAGGCATGAGGATCACCTGAGCCCAGAAGGTCAAGGCTGCAGTAAGCTATGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTTTCTCAAAAACAAACAAACAAACAACAACAACAAAAAAGGGTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTCAG... | pathogenic | 305,968 |
Evaluate this variant at chromosome 19, position 44908791, gene APOE (apolipoprotein E): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['APOE-related_disorder', 'Cardiovascular_phenotype', 'Sea-blue_histiocyte_syndrome'] | AGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTC... | AGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTC... | pathogenic | 306,083 |
Determine if the mutation at chromosome 19, position 44948839 in gene APOC2 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype'] | TAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGC... | TAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGC... | pathogenic | 306,103 |
Regarding the variant at chromosome 19 and position 44949437, affecting gene APOC2: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGC... | TGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGC... | benign | 306,112 |
Chromosome 19, position 45352207, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Xeroderma_pigmentosum'] | CGCTTGTAACCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTAT... | CGCTTGTAACCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTAT... | pathogenic | 306,176 |
Mutation found at chromosome 19 position 45352239, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCC... | GCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCC... | pathogenic | 306,184 |
Is the genetic change at chromosome 19, position 45352250, within gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | ACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCC... | ACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCC... | pathogenic | 306,186 |
Chromosome 19, position 45352350, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | TGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGC... | TGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGC... | pathogenic | 306,203 |
A genetic variant on chromosome 19, position 45352542, affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | TCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCA... | TCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCA... | pathogenic | 306,213 |
Chromosome 19, position 45352545, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCC... | CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCC... | pathogenic | 306,214 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 45352545, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): what disease(s) if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCC... | CCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCC... | pathogenic | 306,215 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 45352546, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | CCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCC... | CCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCC... | pathogenic | 306,216 |
For chromosome 19, position 45352566, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | CCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTC... | CCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTC... | pathogenic | 306,220 |
Variant on chromosome 19, at position 45352758, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | TCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACA... | TCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACA... | pathogenic | 306,235 |
Determine whether the variant at chromosome 19, position 45352776, in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | GCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAG... | GCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAG... | pathogenic | 306,238 |
Considering the variant on chromosome 19, location 45352780, involving gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | CGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGG... | CGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGG... | pathogenic | 306,239 |
Clinical significance of chromosome 19, position 45352782, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCC... | GCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCC... | pathogenic | 306,240 |
The mutation in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) at chromosome 19, position 45352788—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGG... | GCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGG... | pathogenic | 306,241 |
Variant on chromosome 19, at position 45352797, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | TGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCA... | TGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCA... | pathogenic | 306,243 |
Variant at chromosome position 45353086, chromosome 19, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | AAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAA... | AAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAA... | pathogenic | 306,254 |
Considering the genetic mutation at chromosome 19, position 45353258, impacting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | TGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCAC... | TGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCAC... | pathogenic | 306,273 |
A genetic variant at chromosome 19, position 45353292, affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | CCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGC... | CCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGC... | pathogenic | 306,280 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 45353295, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): what disease(s) if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'ERCC2-related_disorder', 'Inborn_genetic_diseases', 'Leukodystrophy', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D', 'likely other unspecified diseases'] | CTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGG... | CTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGG... | pathogenic | 306,281 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45357472—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | CTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGA... | CTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGA... | pathogenic | 306,337 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45357481—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Craniopharyngioma', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | CACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGAT... | CACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGAT... | pathogenic | 306,339 |
Does the variant on chromosome 19 at location 45357643 affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCC... | GACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCC... | pathogenic | 306,351 |
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) variant at chromosome 19, position 45361573—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCCATGGCCACATCCTGGCCAAGGCCCCTCCCCTCCTGCTCAGGTCCCTGCCTGCCACCCAGTCTCCTGCCTCTAGTCCCTGCCAGAAGAACTCTTTTTTTTTTTTTGAGACAGACTCTCATTTTCACCCAGGCTGGAGTGCAGCTGGTGTGATCTCG... | GCCCATAAAGCCTCCAGAATGATGTCCCTCTCTCGTAACCTGAAAATCTGAACATCAGCCTCTACTCCTCTTGTCCCTGGTCCCAAAACCCAGGCACCACGCTCCCCATATCCCAGCCTCTCTACCTCCCACATCTCTCTCCAAACCATACCTTTCTCTCTCCCCATGGCCACATCCTGGCCAAGGCCCCTCCCCTCCTGCTCAGGTCCCTGCCTGCCACCCAGTCTCCTGCCTCTAGTCCCTGCCAGAAGAACTCTTTTTTTTTTTTTGAGACAGACTCTCATTTTCACCCAGGCTGGAGTGCAGCTGGTGTGATCTCG... | pathogenic | 306,370 |
A genetic alteration at chromosome 19, position 45363853, in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | GTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCAC... | GTACACCTGCATGTCACAAATAGCCATTGCCGCATAATGGCACAGACAGAGCAATAATCAGACACTCCAGAGTCATGTGGTCACTTGTCACACCTGCTAGCACGACCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCAC... | pathogenic | 306,399 |
Does the genetic variant at chromosome 19, position 45363958, impacting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGT... | CCTCCTAAGTGGGTTCTTTTTTTCTTTTTCTTTTTTTTCTTTGTTCAGATGGAGTCTTGCCCTGTCATCCAGGCTGGAGAGCACTGGTACCATCTCGACTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGT... | benign | 306,409 |
Chromosome 19, position 45364082, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACC... | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACC... | pathogenic | 306,425 |
The chromosome 19, position 45364085 genetic variant in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum,_group_D'] | TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTAT... | TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACTCAGCTAATTTTTGTACTTTTAGTAGAGACGGACTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCACTGCACCTGGCCCTAAGTGGGTTCTGATCAAAACAAGAGACGCACAATCACACCCAGAACCCCCCAGTCATGGCATTAATCCCGCATGGCCACATGGTCACGCATTCACACCCAGAGCCTCTCCCACTGCCTCTCACGCACCTAT... | pathogenic | 306,427 |
The genetic variant at chromosome 19, position 45364832, affecting gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | GGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGC... | GGAAGGTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGC... | pathogenic | 306,460 |
Mutation found at chromosome 19 position 45364837, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Xeroderma_pigmentosum,_group_D'] | GTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTC... | GTGGCCTCACCCACAGAGGCAGGGCAGCCAGGGCCTTTGGAGCCCACAGGCATGGCTTCAAGCCCCAACTACCGGGCACAGTGCTGTGTGGCTCTGGGCAAAGGCTTCCCCTCTGGGAGTCCCAGTGTCCTCATTTGCAGGGTGGGGATGCTGTACTGGGGGTGCAACTGAGGTAAGGAACATAAAGGGCTTAGCTCCTCCTTAGTGCTCAGGGCAGGGTAGGTGATTGGCTTCGCTGCTCTCTCATTAACCCACCAAAGAACCCTGTGAAGTAAAGACCCGACTCCTTGGCCATTTTACAAAGGAGGAAACTGCAGTTC... | pathogenic | 306,461 |
For chromosome 19, position 45368980, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2', 'Trichothiodystrophy_1,_photosensitive', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_D'] | AGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGC... | AGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGC... | pathogenic | 306,511 |
Mutation found at chromosome 19 position 45369110, gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_2'] | GGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACA... | GGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACA... | pathogenic | 306,520 |
Considering the genetic mutation at chromosome 19, position 45396384, impacting PPP1R13L (protein phosphatase 1 regulatory subunit 13 like): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_variable_ectodermal_abnormalities', 'Orofacial_cleft', 'Primary_dilated_cardiomyopathy'] | TTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGAGCTCAAGCAATCCTGTCTGCATTAGCCCACCAAACTGCTAGGATTACAAGGGTGAGCCACGGTGCCTGGCTAATATGGTAGCTATTGATAGCTTACTATGTATCAGATCCTATTTATTTATTTATTTTTGAGACAGAGTCTCACCCTGTCACCTGTGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACCTCCGCCTCCTTGGCTCAAGCTGAGTAGCTAGGACTACAGTGGTGAGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAT... | TTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCAGAGCTCAAGCAATCCTGTCTGCATTAGCCCACCAAACTGCTAGGATTACAAGGGTGAGCCACGGTGCCTGGCTAATATGGTAGCTATTGATAGCTTACTATGTATCAGATCCTATTTATTTATTTATTTTTGAGACAGAGTCTCACCCTGTCACCTGTGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCCACCTCCGCCTCCTTGGCTCAAGCTGAGTAGCTAGGACTACAGTGGTGAGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGAT... | pathogenic | 306,551 |
The genetic variant at chromosome 19, position 45488717, affecting gene RTN2 (reticulon 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCCCGGCTAATTTTTGGATTATTTATTTATTTTTTTCTTGTTCTTTTTTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTCCTGAGACGGAGTCTTGTTCTGTGGCCCAGGCTGGACTGCAGTGGTGCAATCTCAGCTCACTGCCACCACTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGGACACCACCAAGCCTTGCTAATTTTTGGATTTTTAATACAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTCAG... | GCCCGGCTAATTTTTGGATTATTTATTTATTTTTTTCTTGTTCTTTTTTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTCCTGAGACGGAGTCTTGTTCTGTGGCCCAGGCTGGACTGCAGTGGTGCAATCTCAGCTCACTGCCACCACTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGGACACCACCAAGCCTTGCTAATTTTTGGATTTTTAATACAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTGCCTCAG... | benign | 306,596 |
Evaluate the clinical significance of the mutation at chromosome 19, position 45493266 in gene RTN2 (reticulon 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_spastic_paraplegia_12', 'Spastic_paraplegia'] | CAGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTACAGCCTCTACCTCCCAGAGTCAAGCAAACCTCCTACCTCGGCCTCCTAGCAGCTGGGACTACAGGTGGCACCACGATATCGTGCTAATTTTTTTTTTTTTTTTTTTGGACAAAGTCTTCCTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCGAGTTCAAGAGATTCTTGTGCCTCAGCCTCCCAACTAGCTGGGATCACAGGCATGAGCTGCCATGCCTGGCCTGGCTAATTTTT... | CAGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTACAGCCTCTACCTCCCAGAGTCAAGCAAACCTCCTACCTCGGCCTCCTAGCAGCTGGGACTACAGGTGGCACCACGATATCGTGCTAATTTTTTTTTTTTTTTTTTTGGACAAAGTCTTCCTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCGAGTTCAAGAGATTCTTGTGCCTCAGCCTCCCAACTAGCTGGGATCACAGGCATGAGCTGCCATGCCTGGCCTGGCTAATTTTT... | pathogenic | 306,607 |
The chromosome 19, position 45494914 genetic variant in gene RTN2 (reticulon 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_12', 'Spastic_paraplegia'] | CTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGT... | CTCCCCGCAGCTGTTCTGGCCCGTCTGGCCCCTGAGTGACAGCGCTGCCTGGGGCCGAGGCTGGGGGAGGGGGTCCTCCCTGCTCCTGGGCCCCAAAGTGCTGGCTCGAAGGAGAAGGGACCCCATGCTCCCTCTGGGTCCTCCCTATACTGCCCCTCGGCCCCCTAGCCCCAGCCTGCAGCGCTGCGGAAGCAGATCAGTAATAAAAATGCTCCGGATGTGCAGGAGATAAGGGCGAGTTTGGACCCCGTTCCGCCGACCTCAGCCCCCGTCCAGCCCGTTCCGCAAGCCCACCTTTACTCCCCATATCGGCTCCGAGT... | pathogenic | 306,619 |
Evaluate this variant at chromosome 19, position 45496962, gene RTN2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCAC... | GCCCCAGTCCTGCGACGTGGTCTCCTCCTCGTCCTCCTCTGAGAATTCCCGGGCTGTGTGCAGCTCTCGAAAATCAGAGTCGTCGTTCCCTCCTGCAGTGGGTGAAGGAGAGCCTTGTTTCCCTCAGCAGGTCCCTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCACCACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGACGGAGCTTCTTCTGCGAGAGGGAAAGAATCGAAGACTCTTAGAAGCTTAGACTGTCCGAATCACAGAAGTGTCCCAGTCCTGGAATCTTAGAATATTTGAATCAC... | benign | 306,624 |
A mutation at chromosome position 45547408 on chromosome 19 in gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCTCTACAAAAAATTAAGAAATTAGCTGAGTGTAGTGGTGGCACACCTCTATTCCCAGCTACTCTGGAGGCTGACATGGGAGGATTGCTTGAGCCTGGGAGGCTGAGGCTGCAGTGAGCCGTGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCCAAAATGAAACAAACAAATGGAAAAAACAACAACAACAACCAGAGGCTGAGCACAGTGGCTCACACCTGTAATCCCAGCTTAAAAATCTCTTCCCAGAGTAAAAGTTAGTCTTCATGCTGGCCCAAGGCAGCCCACATTATACAGGTTTGT... | TCTCTACAAAAAATTAAGAAATTAGCTGAGTGTAGTGGTGGCACACCTCTATTCCCAGCTACTCTGGAGGCTGACATGGGAGGATTGCTTGAGCCTGGGAGGCTGAGGCTGCAGTGAGCCGTGATTGCACCACCGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCCAAAATGAAACAAACAAATGGAAAAAACAACAACAACAACCAGAGGCTGAGCACAGTGGCTCACACCTGTAATCCCAGCTTAAAAATCTCTTCCCAGAGTAAAAGTTAGTCTTCATGCTGGCCCAAGGCAGCCCACATTATACAGGTTTGT... | benign | 306,638 |
Clinical classification of chromosome 19, position 45548661, gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? Disease(s) if pathogenic? | benign | AGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAG... | AGCCCCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTGAGACCAAGTCTCACTCTGGCACCTAGGCTGGAATGCAGTAGTGCAATCTTGGCTCACTGCAACGTCCACCTCCTGGGCTCAAGCAATTCTCCTATGTCAGCCTCTCATGTAGCTGGGATTACAGATGTGCACCACCACACCCGGCTAATTTTTGTATTCTTTTTATTAGAGACGGGGCTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCTCCCACCTTGGTCTTCCAAAG... | benign | 306,644 |
Is the chromosome 19, position 45550397 variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTT... | AGAGGGACAGCAGGGCCTGCCAGGAGATGGGAGGGGCACAGCCCTCAGGGCACCTCCCAGGGTTTTGTGAGCTGGGATGAATGGGTTTATAGTCCTGAGTCACTCCAGAGGGAGGATTCCGGATTCAGCCCAGCCCCTGCTTCCTAAACAACTATGGGGTGGGGCAGGGAACACTGGAAAAGAAATGTACGTGTGAGCATCTGTAAGACCCGGTGACGGCAGGGCTGGGGCTGTCTCTGTCACCACTGTGACCCCAGCATAGGGTGGGGCAGAGAGTGGGTAACTCAGTGAGTTTTGTGTTTTATTTTTTTTATTTTTTT... | benign | 306,655 |
Regarding the variant at chromosome 19 and position 45553859, affecting gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['3-Methylglutaconic_aciduria_type_3'] | AGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATG... | AGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATG... | pathogenic | 306,681 |
Classify the chromosome 19 variant at position 45768683 affecting gene SIX5 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCCGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACT... | GGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCCGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACT... | benign | 306,739 |
Does the variant impacting CALM3 (calmodulin 3) on chromosome 19, position 46608465, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCCATCTCAAGTACACAGCCTTCCTTTACTCTCCTTCACATCACTTTATTTTCTTCATAACCTTTCTCGCTGTCTGAAATTATTTTCTTATGTCTTCACCTGTTGTATCTCCTGTTACTAGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAG... | CCCATCTCAAGTACACAGCCTTCCTTTACTCTCCTTCACATCACTTTATTTTCTTCATAACCTTTCTCGCTGTCTGAAATTATTTTCTTATGTCTTCACCTGTTGTATCTCCTGTTACTAGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAG... | benign | 306,797 |
Chromosome 19, position 46609100, gene CALM3 (calmodulin 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCAC... | GGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCAC... | benign | 306,816 |
Considering the variant on chromosome 19, location 46755605, involving gene FKRP (fukutin related protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTAT... | TGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTAT... | pathogenic | 306,847 |
For chromosome 19, position 46755609, gene FKRP (fukutin related protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Walker-Warburg_congenital_muscular_dystrophy'] | ATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGA... | ATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGA... | pathogenic | 306,848 |
Assess the variant on chromosome 19, position 46755610, impacting FKRP (fukutin related protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congen... | TGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGAT... | TGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGAT... | pathogenic | 306,849 |
Evaluate the clinical significance of the mutation at chromosome 19, position 46755653 in gene FKRP (fukutin related protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACC... | TCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACC... | pathogenic | 306,853 |
A genetic variant on chromosome 19, position 46755671, affects the gene FKRP (fukutin related protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy'] | CCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAG... | CCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAG... | pathogenic | 306,858 |
Evaluate this variant at chromosome 19, position 46755895, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAG... | ACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAG... | pathogenic | 306,872 |
For chromosome 19, position 46755957, gene FKRP (fukutin related protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGA... | ACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGA... | pathogenic | 306,878 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 46755985, gene FKRP (fukutin related protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy'] | CTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCT... | CTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCT... | pathogenic | 306,882 |
Is the chromosome 19, position 46756100 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | GTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAA... | GTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAA... | pathogenic | 306,894 |
Is the chromosome 19, position 46756103 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | TTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTT... | TTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTT... | pathogenic | 306,897 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 46756124, gene FKRP (fukutin related protein): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATT... | TGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATT... | pathogenic | 306,898 |
Is the genetic change at chromosome 19, position 46756135, within gene FKRP (fukutin related protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | CTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTAT... | CTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTAT... | pathogenic | 306,899 |
Gene FKRP (fukutin related protein) variant at chromosome 19, position 46756161—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGC... | TGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGC... | pathogenic | 306,902 |
Does the variant impacting FKRP (fukutin related protein) on chromosome 19, position 46756241, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | CACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCC... | CACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCC... | pathogenic | 306,911 |
Located at chromosome 19 position 46756243, the variant affecting gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy'] | CACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTC... | CACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTC... | pathogenic | 306,912 |
Determine whether the variant at chromosome 19, position 46756392, in gene FKRP (fukutin related protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warb... | ACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAA... | ACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAA... | pathogenic | 306,933 |
Variant on chromosome 19, at position 46756398, affecting FKRP (fukutin related protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGC... | GTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGC... | pathogenic | 306,938 |
Located at chromosome 19 position 46756406, the variant affecting gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Walker-Warburg_congenital_muscular_dystrophy'] | TTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCG... | TTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCG... | pathogenic | 306,939 |
Is the chromosome 19, position 46756585 variant in FKRP (fukutin related protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCT... | GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCT... | pathogenic | 306,964 |
Variant in FKRP (fukutin related protein), chromosome 19, position 46756585—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy'] | GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCT... | GTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCT... | pathogenic | 306,965 |
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