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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 3, position 165030877, in gene SI (sucrase-isomaltase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | benign | 76,248 |
Does the genetic variant at chromosome 3, position 165032600, impacting gene SI (sucrase-isomaltase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Sucrase-isomaltase_deficiency'] | AAAGTGAATTGCCTGTCAGAGATGCTAACTTCAAATTCCAAATGATTATCTACTTGAATTTAGTTTATATGCTGCAGATTTAAAATTATAATATGTAAAATTTGCACCAAAATGCTTATGTGATAACCATATCATGAGTAATAGTTAAAATTATTATTACCGTTCTCCATACACAGCCACGTTGTGTGCACTTTTGTTCAGTTGCCAAATCTGCATCTGGATAACAATTAAATCTTTCATTTTCTGAGAAAATTTGATTCCATTGAACACTAAAGTTTCTTCCAAGATTAAGTTTGAGATCTGCAATTAGGAGAACCTTT... | AAAGTGAATTGCCTGTCAGAGATGCTAACTTCAAATTCCAAATGATTATCTACTTGAATTTAGTTTATATGCTGCAGATTTAAAATTATAATATGTAAAATTTGCACCAAAATGCTTATGTGATAACCATATCATGAGTAATAGTTAAAATTATTATTACCGTTCTCCATACACAGCCACGTTGTGTGCACTTTTGTTCAGTTGCCAAATCTGCATCTGGATAACAATTAAATCTTTCATTTTCTGAGAAAATTTGATTCCATTGAACACTAAAGTTTCTTCCAAGATTAAGTTTGAGATCTGCAATTAGGAGAACCTTT... | pathogenic | 76,250 |
Gene SI (sucrase-isomaltase) variant at chromosome position 165041070 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Sucrase-isomaltase_deficiency'] | AGAAGTGTTTGAAAATATAATACTTGTGAGTCCATTAGTATGTTAAGGTTACTTACAGATTCATAATCATACCAAATAGCATCAGGGATGTAGGCACTCACAGTATCTGCTCCCTAAAATAAAGATAATATGTATTTTTTAATTTCAATTTTTAACAAGGAGGATCTTATCAAATATTAAGTTGGGTTTTCATAGTCAAGGGAAAAAAACTTTATGTTGTTACACTCCAATATTTCCTATAGATAATAATCAAAGGGCTATTTTATTAGCTTTAGATAATATCATATTGTAAAACTTAAAAAAGCAAAGAGGTAAATAAA... | AGAAGTGTTTGAAAATATAATACTTGTGAGTCCATTAGTATGTTAAGGTTACTTACAGATTCATAATCATACCAAATAGCATCAGGGATGTAGGCACTCACAGTATCTGCTCCCTAAAATAAAGATAATATGTATTTTTTAATTTCAATTTTTAACAAGGAGGATCTTATCAAATATTAAGTTGGGTTTTCATAGTCAAGGGAAAAAAACTTTATGTTGTTACACTCCAATATTTCCTATAGATAATAATCAAAGGGCTATTTTATTAGCTTTAGATAATATCATATTGTAAAACTTAAAAAAGCAAAGAGGTAAATAAA... | pathogenic | 76,260 |
Is the variant located on chromosome 3 at position 165043153, gene SI (sucrase-isomaltase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Sucrase-isomaltase_deficiency'] | GAAAGAGAAATTAAAATAAGAAAGCTAAAGTATGAGTGAAAATTAAAGTAGAAGCATTTTAATCTGCTTTTTAAAGCAACTACATAAATTTCAGCTTGTTTATGAGAAATTAAAATTATTCCTATTTCATCATCAAAGTGTCTGAATGAATATTTCTAGGTTTTGTTATATATTTTAATTAAACTTAATTTTGAAGTGGACATTTCAACATATTTAAAGCGTTGCCACAGAAAAAATAAATTTTTTTTTTACAAAATAGAATTTTTATCTTGTAAATCAATGTTTCATGCTTCCTTGTACCCACAGCCTTTATCATGGAA... | GAAAGAGAAATTAAAATAAGAAAGCTAAAGTATGAGTGAAAATTAAAGTAGAAGCATTTTAATCTGCTTTTTAAAGCAACTACATAAATTTCAGCTTGTTTATGAGAAATTAAAATTATTCCTATTTCATCATCAAAGTGTCTGAATGAATATTTCTAGGTTTTGTTATATATTTTAATTAAACTTAATTTTGAAGTGGACATTTCAACATATTTAAAGCGTTGCCACAGAAAAAATAAATTTTTTTTTTACAAAATAGAATTTTTATCTTGTAAATCAATGTTTCATGCTTCCTTGTACCCACAGCCTTTATCATGGAA... | pathogenic | 76,262 |
Does the chromosome 3 mutation at position 165060024 within gene SI (sucrase-isomaltase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Sucrase-isomaltase_deficiency'] | AGACATTCTTTTTTTCAGCACATGAATTATTCTCAAGGGTAGACCATATGTCAGGCCAAAAAACAAGTCTTAAAATATTTTTTTTTAAAAAATTGAAATCATATCAACTATTTTCTTACACCACAATGGAATAAAATCAGAAATAAATAACAAGAATAACTTTGGAAGCTATATGAAAACATGAAAATTGAACAATATGCTCCTGAATGACCACTGGGTCAATGAATAAATTTAGGAAAAAATTTACAAATGTTTTTAAAACAAATGATAATGGAAACACAATGTACCAAAGTCTATGGGATAAAATGAAAGAAGTGCTA... | AGACATTCTTTTTTTCAGCACATGAATTATTCTCAAGGGTAGACCATATGTCAGGCCAAAAAACAAGTCTTAAAATATTTTTTTTTAAAAAATTGAAATCATATCAACTATTTTCTTACACCACAATGGAATAAAATCAGAAATAAATAACAAGAATAACTTTGGAAGCTATATGAAAACATGAAAATTGAACAATATGCTCCTGAATGACCACTGGGTCAATGAATAAATTTAGGAAAAAATTTACAAATGTTTTTAAAACAAATGATAATGGAAACACAATGTACCAAAGTCTATGGGATAAAATGAAAGAAGTGCTA... | pathogenic | 76,275 |
Gene SI (sucrase-isomaltase) variant at chromosome 3, position 165063511—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Sucrase-isomaltase_deficiency'] | ACATTGTAAATGATTAAACTGCAAAAAACCTTAGCTGCTCTCATTTCAGCTTTTTGGATCCTAATTTAAAATTTTTTATAGTAATCAATTATCTTTTGAGATCATTTTTGCAAATGGGAATTTTATGTCAAAAGGTATATCAAGAAAATAATATTTTTAAAATAGGCATAATCTTAAAATCTTAAACCAATGAAAATAATTTTCTTTTCCATTGTAACACCAGGAATCATATATATCAACAGTGAAAAGAGAGAAATTACATGAAAGTTTTAGAATCATCTTCAGTGTAGGTCCTGGGTTCCCCACCTCTCTAAAGCCCA... | ACATTGTAAATGATTAAACTGCAAAAAACCTTAGCTGCTCTCATTTCAGCTTTTTGGATCCTAATTTAAAATTTTTTATAGTAATCAATTATCTTTTGAGATCATTTTTGCAAATGGGAATTTTATGTCAAAAGGTATATCAAGAAAATAATATTTTTAAAATAGGCATAATCTTAAAATCTTAAACCAATGAAAATAATTTTCTTTTCCATTGTAACACCAGGAATCATATATATCAACAGTGAAAAGAGAGAAATTACATGAAAGTTTTAGAATCATCTTCAGTGTAGGTCCTGGGTTCCCCACCTCTCTAAAGCCCA... | pathogenic | 76,280 |
Located at chromosome 3 position 165065450, the variant affecting gene SI (sucrase-isomaltase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTGAAATCTATAAATATATTATCAAATGAATTATTCTTACCCATTGCATTGCTATTCATTAAAAAAACACCGAATGACTTTCCAGATGTATCTTCAATACACATAAAGAATGTTTGATGGCCGTATAAATTATTATTATTCTATAAGGCAAGAATTTGAAAATACGATTTTCAAATATGTTTAAAACACAAAAAGATTATATATTTTATATGCTCTTCATGAATTAATTTGTTGCTATAATTTACTTCTCCTGTTTCTACACAAATTGTCTTCACTATATGTACCAGTGAAATATTATAGGTAAAACAAAAAACTTCAAA... | GTGAAATCTATAAATATATTATCAAATGAATTATTCTTACCCATTGCATTGCTATTCATTAAAAAAACACCGAATGACTTTCCAGATGTATCTTCAATACACATAAAGAATGTTTGATGGCCGTATAAATTATTATTATTCTATAAGGCAAGAATTTGAAAATACGATTTTCAAATATGTTTAAAACACAAAAAGATTATATATTTTATATGCTCTTCATGAATTAATTTGTTGCTATAATTTACTTCTCCTGTTTCTACACAAATTGTCTTCACTATATGTACCAGTGAAATATTATAGGTAAAACAAAAAACTTCAAA... | benign | 76,286 |
Classify the chromosome 3 variant at position 165068841 affecting gene SI (sucrase-isomaltase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TAATCTTGACAATTGCTTTATTAACAATTCTTAGGGATACAAGAGCATTTATCTTGAAACCATTCCTAGGAAATTACCAAATCTCTTGCACCTACACCCCTCATACAATCATAATGAAGGTGTTCATTCTATATTGGATTCTACATATATATAAATTATTTTAATATTAATATGGGAAATAACTCCTCTTTGGTCTTTGAATAGTAACTGTCTGATTCTACAAATTGGCAACAAAATACGATAAATATAAGGGGGAAAGACACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGC... | TAATCTTGACAATTGCTTTATTAACAATTCTTAGGGATACAAGAGCATTTATCTTGAAACCATTCCTAGGAAATTACCAAATCTCTTGCACCTACACCCCTCATACAATCATAATGAAGGTGTTCATTCTATATTGGATTCTACATATATATAAATTATTTTAATATTAATATGGGAAATAACTCCTCTTTGGTCTTTGAATAGTAACTGTCTGATTCTACAAATTGGCAACAAAATACGATAAATATAAGGGGGAAAGACACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGC... | benign | 76,294 |
Gene mutation in SI (sucrase-isomaltase) at chromosome 3, position 165068841—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TAATCTTGACAATTGCTTTATTAACAATTCTTAGGGATACAAGAGCATTTATCTTGAAACCATTCCTAGGAAATTACCAAATCTCTTGCACCTACACCCCTCATACAATCATAATGAAGGTGTTCATTCTATATTGGATTCTACATATATATAAATTATTTTAATATTAATATGGGAAATAACTCCTCTTTGGTCTTTGAATAGTAACTGTCTGATTCTACAAATTGGCAACAAAATACGATAAATATAAGGGGGAAAGACACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGC... | TAATCTTGACAATTGCTTTATTAACAATTCTTAGGGATACAAGAGCATTTATCTTGAAACCATTCCTAGGAAATTACCAAATCTCTTGCACCTACACCCCTCATACAATCATAATGAAGGTGTTCATTCTATATTGGATTCTACATATATATAAATTATTTTAATATTAATATGGGAAATAACTCCTCTTTGGTCTTTGAATAGTAACTGTCTGATTCTACAAATTGGCAACAAAATACGATAAATATAAGGGGGAAAGACACAAGAGCTATTCTAGGTATGTACAAATATATGCAAGGCTAGGGTTGCATTAGTGAAGC... | benign | 76,295 |
Chromosome 3, position 165069176, gene SI (sucrase-isomaltase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['SI-related_disorder', 'Sucrase-isomaltase_deficiency'] | TTGTTCAACCTTTATTTGTAGATTCTAATTTATGTTCCAGTATCTTTCATCCACAAGAAACCAAACTCCTTTATCACCGTAATTTTTATAAACCTATCCACCTACCCTCTTTTGGGAGGAAATTTATTTCTACTGAAAATGTCTTGAAATTAAGACTTTCCAATTCTATAATAATAGAATAAACTTATATAATTGTAAAATAATACACTTACAAAGTTTTACCGTTGCTTTTCCTAATAACTTGGATGCTAAATGGGTTTTGGGCAACCTTCACATCATACAACGTATCAGAAACTGTGGGTCCAGTAAACTCTTTTACA... | TTGTTCAACCTTTATTTGTAGATTCTAATTTATGTTCCAGTATCTTTCATCCACAAGAAACCAAACTCCTTTATCACCGTAATTTTTATAAACCTATCCACCTACCCTCTTTTGGGAGGAAATTTATTTCTACTGAAAATGTCTTGAAATTAAGACTTTCCAATTCTATAATAATAGAATAAACTTATATAATTGTAAAATAATACACTTACAAAGTTTTACCGTTGCTTTTCCTAATAACTTGGATGCTAAATGGGTTTTGGGCAACCTTCACATCATACAACGTATCAGAAACTGTGGGTCCAGTAAACTCTTTTACA... | pathogenic | 76,297 |
Clinical classification of chromosome 3, position 165074677, gene SI (sucrase-isomaltase): benign or pathogenic? Disease(s) if pathogenic? | benign | ATGACATGCTAGTTAAAGAACAGTGACTACTGAGTTCGTGAAACATGAGCTCACATTGAAATTTGCATACCACTGTTCTAATTCCAGTTTTGCCTGTAAACTAGCAAAGTGACACTGGAATATTAATTTAGCCTTGAAAAACAGTCTAAGCTTCCATATAAATCCAAAACTTTGTGAATAAGATACCATTTAAATGATAATCTCTTTAAAATCATTTTAAGTTGCACTTTTCCTAGTTAAAAATGTCAAGAAAACACTCAAATTCTTTTGAGATATACTAAGTTAAACTTTTAAAACTGTAAGTTGTATTTTTATAAATA... | ATGACATGCTAGTTAAAGAACAGTGACTACTGAGTTCGTGAAACATGAGCTCACATTGAAATTTGCATACCACTGTTCTAATTCCAGTTTTGCCTGTAAACTAGCAAAGTGACACTGGAATATTAATTTAGCCTTGAAAAACAGTCTAAGCTTCCATATAAATCCAAAACTTTGTGAATAAGATACCATTTAAATGATAATCTCTTTAAAATCATTTTAAGTTGCACTTTTCCTAGTTAAAAATGTCAAGAAAACACTCAAATTCTTTTGAGATATACTAAGTTAAACTTTTAAAACTGTAAGTTGTATTTTTATAAATA... | benign | 76,299 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 165829875, gene BCHE (butyrylcholinesterase): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | ATTTATGCTGATGTTGAGAAGGAATAAAATATTTTACAGCTACGGGTAATATAATAACCCACATATCTTGAAAAGGCAATATAATATTTTTTACTCATACTATCTTTTACCAGCTCTCATTCAATCATTAGCCAAATATTTGTTAAATATGATACATACCCATCATAGTACTTCAATGAATATCAAATCAAAACCACAGGTTCTGTTTCAAGAACGTAGTTTAGTATGGTTGAGGAAGAACAGCTTACAATGAAAGAGGAAATAGACAAGTTACAGTCAACTTCTGTGAGAGTGAACAAGAAGTCTGAAGCAATTGCAAC... | ATTTATGCTGATGTTGAGAAGGAATAAAATATTTTACAGCTACGGGTAATATAATAACCCACATATCTTGAAAAGGCAATATAATATTTTTTACTCATACTATCTTTTACCAGCTCTCATTCAATCATTAGCCAAATATTTGTTAAATATGATACATACCCATCATAGTACTTCAATGAATATCAAATCAAAACCACAGGTTCTGTTTCAAGAACGTAGTTTAGTATGGTTGAGGAAGAACAGCTTACAATGAAAGAGGAAATAGACAAGTTACAGTCAACTTCTGTGAGAGTGAACAAGAAGTCTGAAGCAATTGCAAC... | pathogenic | 76,308 |
Is the genetic change at chromosome 3, position 165830006, within gene BCHE (butyrylcholinesterase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | CCAAATATTTGTTAAATATGATACATACCCATCATAGTACTTCAATGAATATCAAATCAAAACCACAGGTTCTGTTTCAAGAACGTAGTTTAGTATGGTTGAGGAAGAACAGCTTACAATGAAAGAGGAAATAGACAAGTTACAGTCAACTTCTGTGAGAGTGAACAAGAAGTCTGAAGCAATTGCAACTCTAGGAATTAAAGAAATGTTGCATGAGATGTGTAGTAGATTAAGACCTTAAAAAAGTAGGACTTTGTCATTAAAGAGGAAAGAGGTAGGTGTTCTAAACAGGGCACATTGAGAGAAGAAAGTTCTAAGGT... | CCAAATATTTGTTAAATATGATACATACCCATCATAGTACTTCAATGAATATCAAATCAAAACCACAGGTTCTGTTTCAAGAACGTAGTTTAGTATGGTTGAGGAAGAACAGCTTACAATGAAAGAGGAAATAGACAAGTTACAGTCAACTTCTGTGAGAGTGAACAAGAAGTCTGAAGCAATTGCAACTCTAGGAATTAAAGAAATGTTGCATGAGATGTGTAGTAGATTAAGACCTTAAAAAAGTAGGACTTTGTCATTAAAGAGGAAAGAGGTAGGTGTTCTAAACAGGGCACATTGAGAGAAGAAAGTTCTAAGGT... | pathogenic | 76,310 |
Evaluate this variant at chromosome 3, position 165830240, gene BCHE (butyrylcholinesterase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | ACCTTAAAAAAGTAGGACTTTGTCATTAAAGAGGAAAGAGGTAGGTGTTCTAAACAGGGCACATTGAGAGAAGAAAGTTCTAAGGTGCAGTTAAACTCAGAATCTTTGGTATTAGTGAGATAACTGGCTTACCCAGAACCTGGTGTTACTGAGTAATGTGAGTTGCAGCAAGATTACAGAGGCCTTTTAATGCTAGGTGGAAGAATTATAACTTTATCCACAGTGAATAAGTATTAAACCATTTTGAAAAGAATTGTACAACTGATATTGTAGAAACATACATACAGTAACATGAAATACAAAGAATTCCAAATGGAGGG... | ACCTTAAAAAAGTAGGACTTTGTCATTAAAGAGGAAAGAGGTAGGTGTTCTAAACAGGGCACATTGAGAGAAGAAAGTTCTAAGGTGCAGTTAAACTCAGAATCTTTGGTATTAGTGAGATAACTGGCTTACCCAGAACCTGGTGTTACTGAGTAATGTGAGTTGCAGCAAGATTACAGAGGCCTTTTAATGCTAGGTGGAAGAATTATAACTTTATCCACAGTGAATAAGTATTAAACCATTTTGAAAAGAATTGTACAACTGATATTGTAGAAACATACATACAGTAACATGAAATACAAAGAATTCCAAATGGAGGG... | pathogenic | 76,313 |
Variant chromosome 3, position 165830535, gene BCHE (butyrylcholinesterase): benign or pathogenic? Disease(s)? | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | AATACAAAGAATTCCAAATGGAGGGTGGAAAAGAACACCAGAAAGCAATAATGTAACTATCGGCATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCT... | AATACAAAGAATTCCAAATGGAGGGTGGAAAAGAACACCAGAAAGCAATAATGTAACTATCGGCATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCT... | pathogenic | 76,314 |
Clinical classification of chromosome 3, position 165830599, gene BCHE (butyrylcholinesterase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | ATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCTGACTCTTTTGGACATACTATCACAATACTTATAATATATGGGGGAAATATGTTTTTTGTAATGT... | ATTTTGTTTAGTTATAAAAGATAGTGTGATAGACTGAATTACTGAATCAATCAACTTATGATTTATGTAAACATTTCTTGTATAAGTAAATTTCTAAATTTCTATTTTTTTTAAATTATTCACATTGGTGCAATTTACTCCCATGTATAAAATGTGGTTTTGGTTTACAAATGTAGTGGGAGAAAAAAAAACTACTTTATTTTCTATAGATACACATACATATTTAGAAAATATATTCTAAATGGTTATTTTTTCTGACTCTTTTGGACATACTATCACAATACTTATAATATATGGGGGAAATATGTTTTTTGTAATGT... | pathogenic | 76,315 |
Does the chromosome 3 mutation at position 165830933 within gene BCHE (butyrylcholinesterase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Deficiency_of_butyrylcholinesterase'] | TGTCAGCCATAAGACTGCTCAGGTGGAGAACGGCTTAGCTAAAACCTCATGGCCCCAGTCAAACACAGGCTGCCTCAAATCTGATCAGGCCTATTAGGAAAAAAAGAAAAACCAAACAATACAATGGCAAATGTATATTTTGGGTAAACTGAGGGCCAACTGCATCACCATCATGTCCCTTCAATTTCCTAAGCAGAGATACATTACTTCATGTATCAGGTATCATGGTACCAAGCTGAAGAGCTTGGGAAGAAATAGTCCTACTCTGACGTAAATCTGTGAACATTGTAAACTTGCAGGTTAAAAAGTATTCTCACATT... | TGTCAGCCATAAGACTGCTCAGGTGGAGAACGGCTTAGCTAAAACCTCATGGCCCCAGTCAAACACAGGCTGCCTCAAATCTGATCAGGCCTATTAGGAAAAAAAGAAAAACCAAACAATACAATGGCAAATGTATATTTTGGGTAAACTGAGGGCCAACTGCATCACCATCATGTCCCTTCAATTTCCTAAGCAGAGATACATTACTTCATGTATCAGGTATCATGGTACCAAGCTGAAGAGCTTGGGAAGAAATAGTCCTACTCTGACGTAAATCTGTGAACATTGTAAACTTGCAGGTTAAAAAGTATTCTCACATT... | pathogenic | 76,318 |
A mutation at chromosome position 167684362 on chromosome 3 in gene PDCD10 (programmed cell death 10): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cerebral_cavernous_malformation_3'] | GGAACTAATATCCCAAACAAGACGTATTTTCAGTAATAGAGGGAGTACAGTTCAGTGGAAAGAACATGGAATCTGGACACAAATTTAAACTGAGGCCCTAGCAGTTACCAGCTGTGTACCCTAAGCTCTGTCAGTTTCCTCAATTGTAAGATAGCTAAATCATAGGACTGTTAAGAGAATTATGTAAACGTAACTAGTGCTTGACACAGAGAAGGTGCTCAACAAATTTGTTTTCCTCCTCTTCCTTTCCTCTGAAGCCACTTTTCTGTTCTCTGGAAATGAATCTAACTGGGGCCACTCTGGCCTTCTTTTAACACAAA... | GGAACTAATATCCCAAACAAGACGTATTTTCAGTAATAGAGGGAGTACAGTTCAGTGGAAAGAACATGGAATCTGGACACAAATTTAAACTGAGGCCCTAGCAGTTACCAGCTGTGTACCCTAAGCTCTGTCAGTTTCCTCAATTGTAAGATAGCTAAATCATAGGACTGTTAAGAGAATTATGTAAACGTAACTAGTGCTTGACACAGAGAAGGTGCTCAACAAATTTGTTTTCCTCCTCTTCCTTTCCTCTGAAGCCACTTTTCTGTTCTCTGGAAATGAATCTAACTGGGGCCACTCTGGCCTTCTTTTAACACAAA... | pathogenic | 76,324 |
A genetic variant on chromosome 3, position 167687226, affects the gene PDCD10 (programmed cell death 10). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cerebral_cavernous_malformation_3'] | AAGGTGGGCGGATCATGAGGTCTCTTGGAGTGTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTGTCTATAATCCCAGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGCTGGAGGTCGCAGTGAGCCCAGATCCAGCCTGGGCAACATAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAGGGCCAGGAAGAAATAGCTGAATCAATGCAAATCCATCCCCCTACTGAAAGATGGCCTAAAGATCAGGTTCT... | AAGGTGGGCGGATCATGAGGTCTCTTGGAGTGTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTGTCTATAATCCCAGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGCTGGAGGTCGCAGTGAGCCCAGATCCAGCCTGGGCAACATAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAGGGCCAGGAAGAAATAGCTGAATCAATGCAAATCCATCCCCCTACTGAAAGATGGCCTAAAGATCAGGTTCT... | pathogenic | 76,327 |
Does the variant impacting PDCD10 (programmed cell death 10) on chromosome 3, position 167687261, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cerebral_cavernous_malformation_3'] | GACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTGTCTATAATCCCAGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGCTGGAGGTCGCAGTGAGCCCAGATCCAGCCTGGGCAACATAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAGGGCCAGGAAGAAATAGCTGAATCAATGCAAATCCATCCCCCTACTGAAAGATGGCCTAAAGATCAGGTTCTATCAATAATTTTCTGTTTTGAGGAAACAGGTATAA... | GACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTGTCTATAATCCCAGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGCTGGAGGTCGCAGTGAGCCCAGATCCAGCCTGGGCAACATAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAGGGCCAGGAAGAAATAGCTGAATCAATGCAAATCCATCCCCCTACTGAAAGATGGCCTAAAGATCAGGTTCTATCAATAATTTTCTGTTTTGAGGAAACAGGTATAA... | pathogenic | 76,329 |
Variant in PDCD10 (programmed cell death 10), chromosome 3, position 167695653—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cerebral_cavernous_malformation_3'] | TTTGCCCAAGGAAACAATTCCACTAAAAAACAACATGAAGAGTAGAAGTAATTTAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCTCAGAGGTTAGAGACCAGCTTGGGCAATGTAGGGAGATGTGGTTATCTACTAAAAATTAAAAAAAAAAAAAAGAAATTAGCTTGGTGTGGTGTTGTACACCAGTAGTCCTAGCTACTCTGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGTTGAGGGTGCAGTAAGTTATGATCATGCCACTGCAGTC... | TTTGCCCAAGGAAACAATTCCACTAAAAAACAACATGAAGAGTAGAAGTAATTTAAGGCCAGGTGTGGTGGCTCACTCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCTCAGAGGTTAGAGACCAGCTTGGGCAATGTAGGGAGATGTGGTTATCTACTAAAAATTAAAAAAAAAAAAAAGAAATTAGCTTGGTGTGGTGTTGTACACCAGTAGTCCTAGCTACTCTGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGTTGAGGGTGCAGTAAGTTATGATCATGCCACTGCAGTC... | pathogenic | 76,334 |
Does the variant on chromosome 3 at location 167697065 affecting gene PDCD10 (programmed cell death 10) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_cavernous_malformation_3'] | CCCCTACCCTCTCACCCTTCACTGTACTCCAGAAGAGTGTCCCTGGTCTGAGAACTACTGCTCTAGGATGACCCTTCTTGCTGCTGCTCACCAGCCAGCCTTCTGGCCCCATGAGTATTCTTGGTCTTATTTAACCTATATCCCCCAAAGGCAAGGATTTAGAGGCTATTTGGTCAGTCTTAGAAAACACTACTCATGCCTAAGAGTACGTTACTTACCTTAATGACTGCTGCTATTTCTGAAATAAAAATTATTTTGGTATATCTTACTACCAATCTCTAGGATATATCCAGTTTCTCTATTCATTTATCTGACATTTA... | CCCCTACCCTCTCACCCTTCACTGTACTCCAGAAGAGTGTCCCTGGTCTGAGAACTACTGCTCTAGGATGACCCTTCTTGCTGCTGCTCACCAGCCAGCCTTCTGGCCCCATGAGTATTCTTGGTCTTATTTAACCTATATCCCCCAAAGGCAAGGATTTAGAGGCTATTTGGTCAGTCTTAGAAAACACTACTCATGCCTAAGAGTACGTTACTTACCTTAATGACTGCTGCTATTTCTGAAATAAAAATTATTTTGGTATATCTTACTACCAATCTCTAGGATATATCCAGTTTCTCTATTCATTTATCTGACATTTA... | pathogenic | 76,338 |
Variant chromosome 3, position 169764653, gene TERC (telomerase RNA component): benign or pathogenic? Disease(s)? | pathogenic; ['Dyskeratosis_congenita,_autosomal_dominant_1', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_2'] | CAACTCTGCAAAAAAATTAACTTAGGCAAGTAAATAACTTAGGCAAGTAACTAAAACCCCTCTCCGCAGCAGTTTCTTCATCTGCTAGAGTCACTCAAATCGGTGGCAGTAAGAAGTCACTTTTGCAATAATTATTATGTACAGAAAGTTTTCACATAAATTATCTCACTGGATGACCTGTATGGTCATCCAGGATGACTGGCCGTCTTTACTCTAGAATTATATAACTTAATCATTTTACCAAAAAGAAACAATATATTTAATGTTTATAATACTAAGAATTGTCCTTTGGACTGTTTGTAATAGACATGTCAGAGGGA... | CAACTCTGCAAAAAAATTAACTTAGGCAAGTAAATAACTTAGGCAAGTAACTAAAACCCCTCTCCGCAGCAGTTTCTTCATCTGCTAGAGTCACTCAAATCGGTGGCAGTAAGAAGTCACTTTTGCAATAATTATTATGTACAGAAAGTTTTCACATAAATTATCTCACTGGATGACCTGTATGGTCATCCAGGATGACTGGCCGTCTTTACTCTAGAATTATATAACTTAATCATTTTACCAAAAAGAAACAATATATTTAATGTTTATAATACTAAGAATTGTCCTTTGGACTGTTTGTAATAGACATGTCAGAGGGA... | pathogenic | 76,454 |
Is the chromosome 3, position 169765003 variant in TERC clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Dyskeratosis_congenita,_autosomal_dominant_1'] | TGGACTTATTTTTAAATTGAATGTATTAAATCACTGTTTTCTTTTTAAAAATGAAAGAAAAACATTCCCAGTCTGTGGCCATTCTTGCTTCACGGCCCTGCACCACCACAAATGTTGTAAATGTGGAGAAGCAAAAGTACCACTAGATGGAGTAAGAACAAAAGACATGCACTTGTCTGTAGTTCAAGGAGTCCCCGCCCTTGCAAAAGGGATCTTAGTCCCCGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAAGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGCCCAACTTTAC... | TGGACTTATTTTTAAATTGAATGTATTAAATCACTGTTTTCTTTTTAAAAATGAAAGAAAAACATTCCCAGTCTGTGGCCATTCTTGCTTCACGGCCCTGCACCACCACAAATGTTGTAAATGTGGAGAAGCAAAAGTACCACTAGATGGAGTAAGAACAAAAGACATGCACTTGTCTGTAGTTCAAGGAGTCCCCGCCCTTGCAAAAGGGATCTTAGTCCCCGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAAGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGCCCAACTTTAC... | pathogenic | 76,458 |
Evaluate if the mutation on chromosome 3 at position 171009950 in SLC2A2 (solute carrier family 2 member 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GAAAAAATTTTATTTGAAGAAAGACTTTTGGTACTTAAACGAATACAAAACATTGGAAAGCACTAGCTCATTCTGCCTTCTGAAGCTTTCTTAAATGCACATGTAATCAGTCGTGCTGGAAATGGTGGAATGTCCAGCCATTTGCTGACTGCATAAAAAGTTCAGAGACTATCGACAGGCAAGGCTGAATTAAATGTTTGGCATTTTCTTAACTATTTAAAAATAGGATTTGCAGAGGCTTCTTCTTAGAAACTACCTGCCTATCAAATTGAAATGGATGATCTTTGTGTAAAAGATGCTTTGACAATTGTTTTCAAAAT... | GAAAAAATTTTATTTGAAGAAAGACTTTTGGTACTTAAACGAATACAAAACATTGGAAAGCACTAGCTCATTCTGCCTTCTGAAGCTTTCTTAAATGCACATGTAATCAGTCGTGCTGGAAATGGTGGAATGTCCAGCCATTTGCTGACTGCATAAAAAGTTCAGAGACTATCGACAGGCAAGGCTGAATTAAATGTTTGGCATTTTCTTAACTATTTAAAAATAGGATTTGCAGAGGCTTCTTCTTAGAAACTACCTGCCTATCAAATTGAAATGGATGATCTTTGTGTAAAAGATGCTTTGACAATTGTTTTCAAAAT... | benign | 76,519 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 171009950, gene SLC2A2 (solute carrier family 2 member 2): what disease(s) if pathogenic? | benign | GAAAAAATTTTATTTGAAGAAAGACTTTTGGTACTTAAACGAATACAAAACATTGGAAAGCACTAGCTCATTCTGCCTTCTGAAGCTTTCTTAAATGCACATGTAATCAGTCGTGCTGGAAATGGTGGAATGTCCAGCCATTTGCTGACTGCATAAAAAGTTCAGAGACTATCGACAGGCAAGGCTGAATTAAATGTTTGGCATTTTCTTAACTATTTAAAAATAGGATTTGCAGAGGCTTCTTCTTAGAAACTACCTGCCTATCAAATTGAAATGGATGATCTTTGTGTAAAAGATGCTTTGACAATTGTTTTCAAAAT... | GAAAAAATTTTATTTGAAGAAAGACTTTTGGTACTTAAACGAATACAAAACATTGGAAAGCACTAGCTCATTCTGCCTTCTGAAGCTTTCTTAAATGCACATGTAATCAGTCGTGCTGGAAATGGTGGAATGTCCAGCCATTTGCTGACTGCATAAAAAGTTCAGAGACTATCGACAGGCAAGGCTGAATTAAATGTTTGGCATTTTCTTAACTATTTAAAAATAGGATTTGCAGAGGCTTCTTCTTAGAAACTACCTGCCTATCAAATTGAAATGGATGATCTTTGTGTAAAAGATGCTTTGACAATTGTTTTCAAAAT... | benign | 76,520 |
Does the variant on chromosome 3 at location 171014658 affecting gene SLC2A2 (solute carrier family 2 member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi-Bickel_syndrome', 'SLC2A2-related_disorder', 'Type_2_diabetes_mellitus'] | TTTTAAAGGCAATAATGGAAGTATTACATTTTTATTTATTTACTTTTGACTGGTAGATAAATGACACTGGTAATAATGAAAATCATGTCACTTCTCAATGAATCTCTCTAGAAAGATAATTTTATGGGGATACTGATAACTTTGTCTTAATTTTGATGTTGAAGTTATGGACTTTTGGGCTGCTTTTCAAGGGGGATCATTTTATTACTAAAAGCTAGGAGAAACCTCACTTTTTGTTTACCATAGGTCATTTGATACGTGGTCATTTGACATTGTTTTGGGGTATAACCATTGTTGATGCCAAATCCTAAGACTTCAGA... | TTTTAAAGGCAATAATGGAAGTATTACATTTTTATTTATTTACTTTTGACTGGTAGATAAATGACACTGGTAATAATGAAAATCATGTCACTTCTCAATGAATCTCTCTAGAAAGATAATTTTATGGGGATACTGATAACTTTGTCTTAATTTTGATGTTGAAGTTATGGACTTTTGGGCTGCTTTTCAAGGGGGATCATTTTATTACTAAAAGCTAGGAGAAACCTCACTTTTTGTTTACCATAGGTCATTTGATACGTGGTCATTTGACATTGTTTTGGGGTATAACCATTGTTGATGCCAAATCCTAAGACTTCAGA... | pathogenic | 76,528 |
Mutation found at chromosome 3 position 177026485, gene TBL1XR1 (TBL1X/Y related 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGAAGCTAATCCTTATCCAGAAACATTTTAATCTCTTAAAAAACAAAGCAAAACAAACAAACAACAAAAAACCCAAAACTACGTTGCTCCTTTTCACAATAGTGCACATTTTTACCATAATTTAGTTATGGCTACAAAACATCAGAAGATTTTTTTTAATGTATCTTCTCTATGGTAATTAAAAAAAAAGTTGTGCCCTTCTAGTCTTTAATTGGCAGAAATATGTCCCAAAAAAGAAACTATTGCATTTAAGCCACATCACCAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAGCAAAACAAAAAAACAAAACCAACAG... | AGAAGCTAATCCTTATCCAGAAACATTTTAATCTCTTAAAAAACAAAGCAAAACAAACAAACAACAAAAAACCCAAAACTACGTTGCTCCTTTTCACAATAGTGCACATTTTTACCATAATTTAGTTATGGCTACAAAACATCAGAAGATTTTTTTTAATGTATCTTCTCTATGGTAATTAAAAAAAAAGTTGTGCCCTTCTAGTCTTTAATTGGCAGAAATATGTCCCAAAAAAGAAACTATTGCATTTAAGCCACATCACCAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAGCAAAACAAAAAAACAAAACCAACAG... | benign | 76,644 |
Is the genetic variant on chromosome 3, position 177026485, gene TBL1XR1 (TBL1X/Y related 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGAAGCTAATCCTTATCCAGAAACATTTTAATCTCTTAAAAAACAAAGCAAAACAAACAAACAACAAAAAACCCAAAACTACGTTGCTCCTTTTCACAATAGTGCACATTTTTACCATAATTTAGTTATGGCTACAAAACATCAGAAGATTTTTTTTAATGTATCTTCTCTATGGTAATTAAAAAAAAAGTTGTGCCCTTCTAGTCTTTAATTGGCAGAAATATGTCCCAAAAAAGAAACTATTGCATTTAAGCCACATCACCAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAGCAAAACAAAAAAACAAAACCAACAG... | AGAAGCTAATCCTTATCCAGAAACATTTTAATCTCTTAAAAAACAAAGCAAAACAAACAAACAACAAAAAACCCAAAACTACGTTGCTCCTTTTCACAATAGTGCACATTTTTACCATAATTTAGTTATGGCTACAAAACATCAGAAGATTTTTTTTAATGTATCTTCTCTATGGTAATTAAAAAAAAAGTTGTGCCCTTCTAGTCTTTAATTGGCAGAAATATGTCCCAAAAAAGAAACTATTGCATTTAAGCCACATCACCAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAGCAAAACAAAAAAACAAAACCAACAG... | benign | 76,645 |
Evaluate if the mutation on chromosome 3 at position 177051573 in TBL1XR1 (TBL1X/Y related 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Pierpont_syndrome'] | AAAGGAAATTGGTAATAAAGTTCTACCAGTTCACAGAATACAGAGAAAAACAAGAACATGTTTTTTGCTACACAGAATTCTTTTATCCCCTAAGGACTCGGTTGTTATAGATTTAGTATGTTGTTTGTTATTATGGTAAGAATTTTCACCTATTATCTCAAATATTTAGGTACCATTTTCACACTTCTACTTGACATTTAAAGAAAATGAAGTACAGAGTAAAAAGTAACAATTTAACCAAGGATATGCTGTGGGATACACTGAAGAGCTGGATGTTGAACCTTGGTCTGACTAAGGCAAGTCTGTGTCCCACAGTGGGG... | AAAGGAAATTGGTAATAAAGTTCTACCAGTTCACAGAATACAGAGAAAAACAAGAACATGTTTTTTGCTACACAGAATTCTTTTATCCCCTAAGGACTCGGTTGTTATAGATTTAGTATGTTGTTTGTTATTATGGTAAGAATTTTCACCTATTATCTCAAATATTTAGGTACCATTTTCACACTTCTACTTGACATTTAAAGAAAATGAAGTACAGAGTAAAAAGTAACAATTTAACCAAGGATATGCTGTGGGATACACTGAAGAGCTGGATGTTGAACCTTGGTCTGACTAAGGCAAGTCTGTGTCCCACAGTGGGG... | pathogenic | 76,678 |
Considering the genetic mutation at chromosome 3, position 179199149, impacting PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Angioosteohypertrophic_syndrome', 'CLOVES_syndrome', 'Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes', 'PIK3CA-related_disorder', 'PIK3CA_related_overgrowth_syndrome', 'Rare_venous_malformation'] | CGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTT... | CGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGGTGGGATTACAGGTGCATGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCACTTATCTTTAAAGGATTAAGTTTATGTTTCCTACTATGGGAAACCATCCCACCCCAAACTTGATGACCGCATTATGTGCTTTT... | pathogenic | 76,725 |
Does the chromosome 3 mutation at position 179210271 within gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['PIK3CA_related_overgrowth_syndrome'] | CTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAG... | CTGATGAAGTTTATTACTTAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAG... | pathogenic | 76,782 |
Does the genetic variant at chromosome 3, position 179210289, impacting gene PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cowden_syndrome', 'Megalencephaly-capillary_malformation-polymicrogyria_syndrome'] | TAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGAT... | TAGTTGGCTAATTAAAAATAGAATTGTTATACTATTTTATTGTTGATTAAGAATTATTTTATTTATAATCAAGATTAGACCAGAATGATAAGACATTTGAAAAGTTTTTAAAATTACTATCTAACATATGAGCTTCTATCATGGGACAATTGCTATTCTAATTCCTTTGCTTGTGTTATCTCATTTAATTTTATGAGATAGTTATCAACCTTATGAGGGTAGGTACTATTATTAGTCCCATTTCATAGAGGAGGCAAAAGACAAAGCAAGGGTCACACACTTAGTGAAAAAGGGGAAATAAGATTCTACTCCAGTCTGAT... | pathogenic | 76,786 |
Gene GNB4 (G protein subunit beta 4) variant at chromosome position 179401322 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTCACTGCAACCTCTGCCTCCCGGGTTCAGGCGAATCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGTGCCACCACGCCCGGCTAATGTTTGTATTTTTAGAAGAGATGGGGTTTCACCATGTTGGGTAGGCTGGTCGCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAATTGCTGGGATTATAGGTGTAAGCCACTCTGCCCAGCCAAAAAGTTAATAGAAATCTTAATCAAAATATAAATATACATTCATAACTGCCATCTACAATATTCTGTTTTGGTCCTATATCTTAATTTGC... | CTCACTGCAACCTCTGCCTCCCGGGTTCAGGCGAATCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGTGCCACCACGCCCGGCTAATGTTTGTATTTTTAGAAGAGATGGGGTTTCACCATGTTGGGTAGGCTGGTCGCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAATTGCTGGGATTATAGGTGTAAGCCACTCTGCCCAGCCAAAAAGTTAATAGAAATCTTAATCAAAATATAAATATACATTCATAACTGCCATCTACAATATTCTGTTTTGGTCCTATATCTTAATTTGC... | benign | 76,921 |
Gene mutation in GNB4 (G protein subunit beta 4) at chromosome 3, position 179405179—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCAAAGCTTCCTCAGTGAACGGCCAGCCTAGAGTAAATGGAGGCCGAGTCAGCACACCAGCCACGTGCCCAGAGCTTCAAATGGTTTTAGTGCCTCGCTCTTAAGTATGAATAAGAATTAACACTTTTAAGGAAATATTCTAAAAATAAAGACAGGAAACCCCAAAAATGAAGAAAAAAAAAACTTGGAAACACAAAAGATGATGCTTGAAGAAGAAACTTAAAAAAAAAATTCTTTCACTAATAATAGCTCTTAAGTTAAAAAGATGGTAGCGAAAATGAAAACCAAAACTTAACAGAAGGGTGGAAACCTGAGGTGAG... | GCAAAGCTTCCTCAGTGAACGGCCAGCCTAGAGTAAATGGAGGCCGAGTCAGCACACCAGCCACGTGCCCAGAGCTTCAAATGGTTTTAGTGCCTCGCTCTTAAGTATGAATAAGAATTAACACTTTTAAGGAAATATTCTAAAAATAAAGACAGGAAACCCCAAAAATGAAGAAAAAAAAAACTTGGAAACACAAAAGATGATGCTTGAAGAAGAAACTTAAAAAAAAAATTCTTTCACTAATAATAGCTCTTAAGTTAAAAAGATGGTAGCGAAAATGAAAACCAAAACTTAACAGAAGGGTGGAAACCTGAGGTGAG... | benign | 76,923 |
Classify the chromosome 3 variant at position 179420934 affecting gene GNB4 (G protein subunit beta 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGCCTGTGCACCTGCAGATGGTCAGCTTGCACATTCAAGCACACACCTTTCTGTGATGCAGTCGAGGGAGTAAAAGATGTATTCAGTACAAACACCTTTGTTTCATGTAATTTCCATTATTTGCGAATTTATGTAATAACAAACTATAGCAATATCCAAAAACTTGCACATAGGTGTTCAATACGTATTTGCTTATGAACTGAAATTTCAAGCTTCATATACAGTAAAAACGCTTTGTGCCTATTTAAAAAACAAAGAATGTCTGCAATGTTCCACTGCAAAGAAAAGGAATCCTCTTCTGAACAGTTGTCCTGGATTCC... | TGCCTGTGCACCTGCAGATGGTCAGCTTGCACATTCAAGCACACACCTTTCTGTGATGCAGTCGAGGGAGTAAAAGATGTATTCAGTACAAACACCTTTGTTTCATGTAATTTCCATTATTTGCGAATTTATGTAATAACAAACTATAGCAATATCCAAAAACTTGCACATAGGTGTTCAATACGTATTTGCTTATGAACTGAAATTTCAAGCTTCATATACAGTAAAAACGCTTTGTGCCTATTTAAAAAACAAAGAATGTCTGCAATGTTCCACTGCAAAGAAAAGGAATCCTCTTCTGAACAGTTGTCCTGGATTCC... | benign | 76,945 |
Is the genetic variant on chromosome 3, position 180616289, gene CCDC39, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGTATCTGAAAGCAAATCTTTAATGCGTTTATTTCAAGGTCAGAAGTGATTTATTTCAAGGTCAGAAGTGATTTTTCTAAATTTATGCTGCATTTTAAAATTGATATACAGTGTTTCTCTTACCGGTTTTTTTTTGGGGGGGTGGGGTGGGTAGGGGTTGATGCTATTTTTTGGTTAAAAATTATAGCAAAAGAAGAAACTGCCTTTAACAATTTTTCTCCCCAAAAGTCTGAGAAATAGTTACTTTGAATAAAGAAAACCTAATTTTGGTGTCTTGTAGGGTAAATGAGATTTTCACATTGCAATACGCTCATAATAGT... | TGTATCTGAAAGCAAATCTTTAATGCGTTTATTTCAAGGTCAGAAGTGATTTATTTCAAGGTCAGAAGTGATTTTTCTAAATTTATGCTGCATTTTAAAATTGATATACAGTGTTTCTCTTACCGGTTTTTTTTTGGGGGGGTGGGGTGGGTAGGGGTTGATGCTATTTTTTGGTTAAAAATTATAGCAAAAGAAGAAACTGCCTTTAACAATTTTTCTCCCCAAAAGTCTGAGAAATAGTTACTTTGAATAAAGAAAACCTAATTTTGGTGTCTTGTAGGGTAAATGAGATTTTCACATTGCAATACGCTCATAATAGT... | benign | 76,957 |
Gene mutation in CCDC39 at chromosome 3, position 180616593—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | ATACGCTCATAATAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTAT... | ATACGCTCATAATAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTAT... | pathogenic | 76,959 |
Regarding the variant at chromosome 3 and position 180616603, affecting gene CCDC39: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | AATAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTAT... | AATAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTAT... | pathogenic | 76,960 |
Gene CCDC39 variant at chromosome 3, position 180616605—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATAT... | TAGTACAGTAAATCTTTAGAAATTTCTTCTTGAAAGATTGTTACATTAGAAGTGAGTGTAGTTTCGTGAAATAATGAAGCAAACTATTTTCTAACACTACGAACATCAGAATTACAGTGAAATACAGCATTTTTCCTATGCTTGTATAACATGTAGCCTTGTCAAGAATCTGCTATTAATTTCTTCAGTATGAAGAAAACAGTAGAGAAAATGAGAACGTTCCTTTTTTTTTAAAACTATCAGTTTTTACACTTACCACTAAGTTTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATAT... | pathogenic | 76,961 |
Gene mutation in CCDC39 at chromosome 3, position 180616869—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATATTTTTGTTTTTGTGTTTACAACTTTTTCAGAAGAGATTAAAATGTTTATTTGCTGCTCTTTTTGCTCTTAACATTACTAGAGCTACTACTAGCACTAGATGGCCTAGAAGGGCTGCCTACTAGTGAAGAGGAGGCCGGGAATTTAAGCTCCAGTACTTTAATTGAAGACTGAGAAGTAGATGTACTTGTACTCCTAGATGACCTAGAAGAAAAACCAGAATTATAAATTCAATGCAAAGTTTATATTTTAGTATAGACCCTCTCA... | TTTTACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATATTTTTGTTTTTGTGTTTACAACTTTTTCAGAAGAGATTAAAATGTTTATTTGCTGCTCTTTTTGCTCTTAACATTACTAGAGCTACTACTAGCACTAGATGGCCTAGAAGGGCTGCCTACTAGTGAAGAGGAGGCCGGGAATTTAAGCTCCAGTACTTTAATTGAAGACTGAGAAGTAGATGTACTTGTACTCCTAGATGACCTAGAAGAAAAACCAGAATTATAAATTCAATGCAAAGTTTATATTTTAGTATAGACCCTCTCA... | pathogenic | 76,967 |
Clinical classification of chromosome 3, position 180616873, gene CCDC39: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | ACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATATTTTTGTTTTTGTGTTTACAACTTTTTCAGAAGAGATTAAAATGTTTATTTGCTGCTCTTTTTGCTCTTAACATTACTAGAGCTACTACTAGCACTAGATGGCCTAGAAGGGCTGCCTACTAGTGAAGAGGAGGCCGGGAATTTAAGCTCCAGTACTTTAATTGAAGACTGAGAAGTAGATGTACTTGTACTCCTAGATGACCTAGAAGAAAAACCAGAATTATAAATTCAATGCAAAGTTTATATTTTAGTATAGACCCTCTCATTAT... | ACACTTTCCACTAGATAAAATGTGTTGGGTCGTTTTGTATTTTAAAGTATATTTTTGTTTTTGTGTTTACAACTTTTTCAGAAGAGATTAAAATGTTTATTTGCTGCTCTTTTTGCTCTTAACATTACTAGAGCTACTACTAGCACTAGATGGCCTAGAAGGGCTGCCTACTAGTGAAGAGGAGGCCGGGAATTTAAGCTCCAGTACTTTAATTGAAGACTGAGAAGTAGATGTACTTGTACTCCTAGATGACCTAGAAGAAAAACCAGAATTATAAATTCAATGCAAAGTTTATATTTTAGTATAGACCCTCTCATTAT... | pathogenic | 76,968 |
Chromosome 3, position 180619333, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TACAATTATGTACAGTGCATAATACTTGATAGTGATAATAAAAGATATTACTGATTTATGTATTTACTATACAATATACTTTTATTATTTTACAGTGTACTCCTATTTATTTAAAAAGTTAACTATAAAACAGCCTCAGGCAGGTCCTTCAGGAGATATTCCAGAAGAGGGCATTGTTATCATAGATGACAGCTCCATTCATGTTACTGACCCTGAAGACCTTCAAGTGGGACAAGATATGGAGGTGGAAGACAGTGGTATTGATGATCCTGACCACGGGTAGGCTTAGGTTTATGTGTGTGTATGTGTCTTAGTTTTTA... | TACAATTATGTACAGTGCATAATACTTGATAGTGATAATAAAAGATATTACTGATTTATGTATTTACTATACAATATACTTTTATTATTTTACAGTGTACTCCTATTTATTTAAAAAGTTAACTATAAAACAGCCTCAGGCAGGTCCTTCAGGAGATATTCCAGAAGAGGGCATTGTTATCATAGATGACAGCTCCATTCATGTTACTGACCCTGAAGACCTTCAAGTGGGACAAGATATGGAGGTGGAAGACAGTGGTATTGATGATCCTGACCACGGGTAGGCTTAGGTTTATGTGTGTGTATGTGTCTTAGTTTTTA... | pathogenic | 76,978 |
Considering the genetic mutation at chromosome 3, position 180619907, impacting CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia_14'] | CAGTAGTGTTCAGCAATTAGGCCTTCACATTCTCTCACCACTCACTCACTCAGTCACTCACCCAGAGCAGCTTCCAGTCCCGCAAGCTCCATTTATGGTAAGTGCCCTGTACAGGTGTACCATTTTTTTAATCCATTATACCATATTTTTATTGTACCTTTTCTATGTTTAGATTTGTTTAGATACACAAGTACCACTGTGTTACAGTTGCCTATAGTACTCAGTACAGTAACACACTTTACAAGCTTATAGCCTAGGAACAATAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTTATGATGTTCACACAGTGACA... | CAGTAGTGTTCAGCAATTAGGCCTTCACATTCTCTCACCACTCACTCACTCAGTCACTCACCCAGAGCAGCTTCCAGTCCCGCAAGCTCCATTTATGGTAAGTGCCCTGTACAGGTGTACCATTTTTTTAATCCATTATACCATATTTTTATTGTACCTTTTCTATGTTTAGATTTGTTTAGATACACAAGTACCACTGTGTTACAGTTGCCTATAGTACTCAGTACAGTAACACACTTTACAAGCTTATAGCCTAGGAACAATAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTTATGATGTTCACACAGTGACA... | pathogenic | 76,981 |
Evaluate this variant at chromosome 3, position 180619925, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | AGGCCTTCACATTCTCTCACCACTCACTCACTCAGTCACTCACCCAGAGCAGCTTCCAGTCCCGCAAGCTCCATTTATGGTAAGTGCCCTGTACAGGTGTACCATTTTTTTAATCCATTATACCATATTTTTATTGTACCTTTTCTATGTTTAGATTTGTTTAGATACACAAGTACCACTGTGTTACAGTTGCCTATAGTACTCAGTACAGTAACACACTTTACAAGCTTATAGCCTAGGAACAATAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTTATGATGTTCACACAGTGACAAAATCGCCCAAGGATGCA... | AGGCCTTCACATTCTCTCACCACTCACTCACTCAGTCACTCACCCAGAGCAGCTTCCAGTCCCGCAAGCTCCATTTATGGTAAGTGCCCTGTACAGGTGTACCATTTTTTTAATCCATTATACCATATTTTTATTGTACCTTTTCTATGTTTAGATTTGTTTAGATACACAAGTACCACTGTGTTACAGTTGCCTATAGTACTCAGTACAGTAACACACTTTACAAGCTTATAGCCTAGGAACAATAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTTATGATGTTCACACAGTGACAAAATCGCCCAAGGATGCA... | pathogenic | 76,982 |
Variant chromosome 3, position 180631498, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | CAATAGAGAGTCGAAGGTCTGCACTCCTATAGAATCAGATAATACCTGGAGGGCCCACTAGAAAATGCCAACACCTTGGTATCACCATGCACTGGCATCATTGCACCCATGGTTTGCTTTTCTCTATTTTTCAGGCCATAATTTTTCCTGATATAAGCTAGACTGAGTTTAGTTATTATTTAAGTTTCATTTTTACACATCTGAGACTTGTGAAGTGTTACCAGTAAAAAGTGTAAACATGCTATACAACAACAACAACAAAAAATGGGAATAACTGCGTGGCAAGCTGTGGATCCCAGAGAAGATGGAAGATAAGAAAT... | CAATAGAGAGTCGAAGGTCTGCACTCCTATAGAATCAGATAATACCTGGAGGGCCCACTAGAAAATGCCAACACCTTGGTATCACCATGCACTGGCATCATTGCACCCATGGTTTGCTTTTCTCTATTTTTCAGGCCATAATTTTTCCTGATATAAGCTAGACTGAGTTTAGTTATTATTTAAGTTTCATTTTTACACATCTGAGACTTGTGAAGTGTTACCAGTAAAAAGTGTAAACATGCTATACAACAACAACAACAAAAAATGGGAATAACTGCGTGGCAAGCTGTGGATCCCAGAGAAGATGGAAGATAAGAAAT... | pathogenic | 76,984 |
Does the chromosome 3 mutation at position 180641994 within gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['CCDC39-related_disorder', 'Heterotaxy', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TGAAAAAAGCCAGACAAAAGGCAGACCTACTATTGGATTCCATTTATGTTAAACTCTTGAAAATGCAATCCGAACTATATGGATGAAAAGGAGATCAGTTGTCCGGAGAGAGAAACATGGGGGAAGGACCGAAGGGAGGAATTACAATGGGGTACAAAGAAACTTGTGGGGGTGATGGATACATTATCTTGATGGTGGTGATGGTCTCTCCGGTACATTACGTATGTCAAAACCTATCAAATGTACACTTTAAATATGTGCAACTTATGTATCTCAAATATACCTCAATAAAGTTTAAAAAGTAAAGTCTATGACAATTG... | TGAAAAAAGCCAGACAAAAGGCAGACCTACTATTGGATTCCATTTATGTTAAACTCTTGAAAATGCAATCCGAACTATATGGATGAAAAGGAGATCAGTTGTCCGGAGAGAGAAACATGGGGGAAGGACCGAAGGGAGGAATTACAATGGGGTACAAAGAAACTTGTGGGGGTGATGGATACATTATCTTGATGGTGGTGATGGTCTCTCCGGTACATTACGTATGTCAAAACCTATCAAATGTACACTTTAAATATGTGCAACTTATGTATCTCAAATATACCTCAATAAAGTTTAAAAAGTAAAGTCTATGACAATTG... | pathogenic | 76,989 |
Located at chromosome 3 position 180642018, the variant affecting gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | ACCTACTATTGGATTCCATTTATGTTAAACTCTTGAAAATGCAATCCGAACTATATGGATGAAAAGGAGATCAGTTGTCCGGAGAGAGAAACATGGGGGAAGGACCGAAGGGAGGAATTACAATGGGGTACAAAGAAACTTGTGGGGGTGATGGATACATTATCTTGATGGTGGTGATGGTCTCTCCGGTACATTACGTATGTCAAAACCTATCAAATGTACACTTTAAATATGTGCAACTTATGTATCTCAAATATACCTCAATAAAGTTTAAAAAGTAAAGTCTATGACAATTGAAAGACAGGAAAGGTAAAAAAGAA... | ACCTACTATTGGATTCCATTTATGTTAAACTCTTGAAAATGCAATCCGAACTATATGGATGAAAAGGAGATCAGTTGTCCGGAGAGAGAAACATGGGGGAAGGACCGAAGGGAGGAATTACAATGGGGTACAAAGAAACTTGTGGGGGTGATGGATACATTATCTTGATGGTGGTGATGGTCTCTCCGGTACATTACGTATGTCAAAACCTATCAAATGTACACTTTAAATATGTGCAACTTATGTATCTCAAATATACCTCAATAAAGTTTAAAAAGTAAAGTCTATGACAATTGAAAGACAGGAAAGGTAAAAAAGAA... | pathogenic | 76,991 |
Regarding the variant found on chromosome 3 at position 180644152 in gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CTTTTTTCTAGGGAAAGAACTTCTTCTGCCTTACTGTGAAGCATTTCTCGAGTACGCTTAACTTCAAGTTTTAAAAGATTGTCCTCTATCATCAAATCCTATCAACGTAACAAAATGGTCAAATATTGAAATTATTTTTAATTGCAAAACCAAAATTTTTTTTATTGCTATATAAGTAAAACTTGAAAATATACCTTTTTCCAATTTAACCATTGACTAAGATATTAGCTAGGCCTAAAATTGATCATAGTTTTTTTTTTTCTTTTAAGAAAAGGGTTTATAGTTATTCCAAATCTTTTTCATAATTCAATTTTAAAGTC... | CTTTTTTCTAGGGAAAGAACTTCTTCTGCCTTACTGTGAAGCATTTCTCGAGTACGCTTAACTTCAAGTTTTAAAAGATTGTCCTCTATCATCAAATCCTATCAACGTAACAAAATGGTCAAATATTGAAATTATTTTTAATTGCAAAACCAAAATTTTTTTTATTGCTATATAAGTAAAACTTGAAAATATACCTTTTTCCAATTTAACCATTGACTAAGATATTAGCTAGGCCTAAAATTGATCATAGTTTTTTTTTTTCTTTTAAGAAAAGGGTTTATAGTTATTCCAAATCTTTTTCATAATTCAATTTTAAAGTC... | pathogenic | 76,995 |
Evaluate this variant at chromosome 3, position 180644240, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TCATCAAATCCTATCAACGTAACAAAATGGTCAAATATTGAAATTATTTTTAATTGCAAAACCAAAATTTTTTTTATTGCTATATAAGTAAAACTTGAAAATATACCTTTTTCCAATTTAACCATTGACTAAGATATTAGCTAGGCCTAAAATTGATCATAGTTTTTTTTTTTCTTTTAAGAAAAGGGTTTATAGTTATTCCAAATCTTTTTCATAATTCAATTTTAAAGTCAAGCTTTGCTATTATAAAAAACAAAGGGAAGAAGTTATTCCTGAAGTTAAACTTACGCTATCCAAAAAACATAAAGCCCTATGAATGG... | TCATCAAATCCTATCAACGTAACAAAATGGTCAAATATTGAAATTATTTTTAATTGCAAAACCAAAATTTTTTTTATTGCTATATAAGTAAAACTTGAAAATATACCTTTTTCCAATTTAACCATTGACTAAGATATTAGCTAGGCCTAAAATTGATCATAGTTTTTTTTTTTCTTTTAAGAAAAGGGTTTATAGTTATTCCAAATCTTTTTCATAATTCAATTTTAAAGTCAAGCTTTGCTATTATAAAAAACAAAGGGAAGAAGTTATTCCTGAAGTTAAACTTACGCTATCCAAAAAACATAAAGCCCTATGAATGG... | pathogenic | 76,999 |
Gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) variant at chromosome 3, position 180647255—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATAGAAGTGCCATGTAAATGTCAGCTATTATTAATTACATACATAATCACATATTGCTAAAGAGAAAAATGTTTGATTAGAACTAATTCCATCATATGCATAAATAGATCATACATTTGCAGATACCAGTTTTCCAGTTTTATACCTGTTTAGATCCCTCTTCCCACCCAGAACCCAGAATAAGGTTTGTGCTCTTATTCCCTTCTTGTTTCCTAAATCTAAACTTTCCAGTTCCAAGATCTCTTTCCCTCTCTTCCTCCCTCTATCCGTTCCTCCTCTCCTCTGTTTCTAATTGCCTGCATTTCTCTGAAGTATTGGGA... | ATAGAAGTGCCATGTAAATGTCAGCTATTATTAATTACATACATAATCACATATTGCTAAAGAGAAAAATGTTTGATTAGAACTAATTCCATCATATGCATAAATAGATCATACATTTGCAGATACCAGTTTTCCAGTTTTATACCTGTTTAGATCCCTCTTCCCACCCAGAACCCAGAATAAGGTTTGTGCTCTTATTCCCTTCTTGTTTCCTAAATCTAAACTTTCCAGTTCCAAGATCTCTTTCCCTCTCTTCCTCCCTCTATCCGTTCCTCCTCTCCTCTGTTTCTAATTGCCTGCATTTCTCTGAAGTATTGGGA... | benign | 77,004 |
Evaluate the clinical significance of the mutation at chromosome 3, position 180647255 in gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATAGAAGTGCCATGTAAATGTCAGCTATTATTAATTACATACATAATCACATATTGCTAAAGAGAAAAATGTTTGATTAGAACTAATTCCATCATATGCATAAATAGATCATACATTTGCAGATACCAGTTTTCCAGTTTTATACCTGTTTAGATCCCTCTTCCCACCCAGAACCCAGAATAAGGTTTGTGCTCTTATTCCCTTCTTGTTTCCTAAATCTAAACTTTCCAGTTCCAAGATCTCTTTCCCTCTCTTCCTCCCTCTATCCGTTCCTCCTCTCCTCTGTTTCTAATTGCCTGCATTTCTCTGAAGTATTGGGA... | ATAGAAGTGCCATGTAAATGTCAGCTATTATTAATTACATACATAATCACATATTGCTAAAGAGAAAAATGTTTGATTAGAACTAATTCCATCATATGCATAAATAGATCATACATTTGCAGATACCAGTTTTCCAGTTTTATACCTGTTTAGATCCCTCTTCCCACCCAGAACCCAGAATAAGGTTTGTGCTCTTATTCCCTTCTTGTTTCCTAAATCTAAACTTTCCAGTTCCAAGATCTCTTTCCCTCTCTTCCTCCCTCTATCCGTTCCTCCTCTCCTCTGTTTCTAATTGCCTGCATTTCTCTGAAGTATTGGGA... | benign | 77,005 |
Variant in CCDC39 (coiled-coil domain 39 molecular ruler complex subunit), chromosome 3, position 180651495—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TATGACACAAAACAAGTCTGTGACTGGCACATTGAAATCTTTGCATAAACAAGAAATATAATCTGATATTCAGTGCATTATTTTACATAAACAATTTTCTATAGGTTTAAGATCTTCTCAAAGATTGCCTGGCAGAGTTTTAAAGCCAATGCTTCGTGGTGAATAACACAGTACATCTCCAAAAAAGATAGGGTTGGGATTTTTTCAAACAAACAAAAACCAACAGCAATGAAAAAACCCCCAAGACTATGAACACAGCCCTGCTAAAAAAACAATCGGTACACCCTGCTGCTAATATTATTAATTTTTCTAATTTAGCC... | TATGACACAAAACAAGTCTGTGACTGGCACATTGAAATCTTTGCATAAACAAGAAATATAATCTGATATTCAGTGCATTATTTTACATAAACAATTTTCTATAGGTTTAAGATCTTCTCAAAGATTGCCTGGCAGAGTTTTAAAGCCAATGCTTCGTGGTGAATAACACAGTACATCTCCAAAAAAGATAGGGTTGGGATTTTTTCAAACAAACAAAAACCAACAGCAATGAAAAAACCCCCAAGACTATGAACACAGCCCTGCTAAAAAAACAATCGGTACACCCTGCTGCTAATATTATTAATTTTTCTAATTTAGCC... | pathogenic | 77,013 |
Is chromosome 3, position 180651522, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | CACATTGAAATCTTTGCATAAACAAGAAATATAATCTGATATTCAGTGCATTATTTTACATAAACAATTTTCTATAGGTTTAAGATCTTCTCAAAGATTGCCTGGCAGAGTTTTAAAGCCAATGCTTCGTGGTGAATAACACAGTACATCTCCAAAAAAGATAGGGTTGGGATTTTTTCAAACAAACAAAAACCAACAGCAATGAAAAAACCCCCAAGACTATGAACACAGCCCTGCTAAAAAAACAATCGGTACACCCTGCTGCTAATATTATTAATTTTTCTAATTTAGCCAGTTCTTCAAAAATGTCTGAAGTTTTT... | CACATTGAAATCTTTGCATAAACAAGAAATATAATCTGATATTCAGTGCATTATTTTACATAAACAATTTTCTATAGGTTTAAGATCTTCTCAAAGATTGCCTGGCAGAGTTTTAAAGCCAATGCTTCGTGGTGAATAACACAGTACATCTCCAAAAAAGATAGGGTTGGGATTTTTTCAAACAAACAAAAACCAACAGCAATGAAAAAACCCCCAAGACTATGAACACAGCCCTGCTAAAAAAACAATCGGTACACCCTGCTGCTAATATTATTAATTTTTCTAATTTAGCCAGTTCTTCAAAAATGTCTGAAGTTTTT... | pathogenic | 77,014 |
Variant on chromosome 3, at position 180652178, affecting CCDC39 (coiled-coil domain 39 molecular ruler complex subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | GTCACACTTATAGTTCACACTTATAGTTCACTTTGAAGTTTTCAAAGACGAAGTGGTGCACCAGCCTTTTCCAGTTCCTCAAAAATTGGCTTTAATGCCATCAACATGCCAAAAAAGACTGAGGTAGAAGAAGGTGCCAGTAGAATTAGCAAAGTTATAGCATTTCAAAGCCCATTTACCAAAAAATTTTGCCAGAGTATAAGGGGTTAAAGAGATAGTAGATGATAAAGAAGTACAAATCAGGAATGTAGATGATGATGGGAATTTGATTACAAAAAAACAGTGATAATCATGTAGAAATCAGTTGTAAAACAAAGCCA... | GTCACACTTATAGTTCACACTTATAGTTCACTTTGAAGTTTTCAAAGACGAAGTGGTGCACCAGCCTTTTCCAGTTCCTCAAAAATTGGCTTTAATGCCATCAACATGCCAAAAAAGACTGAGGTAGAAGAAGGTGCCAGTAGAATTAGCAAAGTTATAGCATTTCAAAGCCCATTTACCAAAAAATTTTGCCAGAGTATAAGGGGTTAAAGAGATAGTAGATGATAAAGAAGTACAAATCAGGAATGTAGATGATGATGGGAATTTGATTACAAAAAAACAGTGATAATCATGTAGAAATCAGTTGTAAAACAAAGCCA... | pathogenic | 77,017 |
Determine whether the variant at chromosome 3, position 180654743, in gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATTAATCAAAATTATTTAAACAGAAAATCTAAGATACAAATTTTCTTTTTTATTAAGGACCTTTGCAAAAACCCTAAACTCTCCACCAAATACTCTCAGAACAAATTCAGTAAGGTTTCTGGATACAATATCAATATACAAAACCAGTTACATTCTATACACTTACAACAAGCAATCCAAAAAAGAAATCAAGAAAACAATCCCATTTACAATGGCATCAAAAAGAATAAAATACTTAGGAATAAATTTAACCAAGGAAGAAAAAGATCTGTACACTAAAAACTACAAAACATTGATGAGAGAAATTGTAGAGGACATAA... | ATTAATCAAAATTATTTAAACAGAAAATCTAAGATACAAATTTTCTTTTTTATTAAGGACCTTTGCAAAAACCCTAAACTCTCCACCAAATACTCTCAGAACAAATTCAGTAAGGTTTCTGGATACAATATCAATATACAAAACCAGTTACATTCTATACACTTACAACAAGCAATCCAAAAAAGAAATCAAGAAAACAATCCCATTTACAATGGCATCAAAAAGAATAAAATACTTAGGAATAAATTTAACCAAGGAAGAAAAAGATCTGTACACTAAAAACTACAAAACATTGATGAGAGAAATTGTAGAGGACATAA... | benign | 77,023 |
A genetic variant on chromosome 3, position 180654860, affects the gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | TCTGGATACAATATCAATATACAAAACCAGTTACATTCTATACACTTACAACAAGCAATCCAAAAAAGAAATCAAGAAAACAATCCCATTTACAATGGCATCAAAAAGAATAAAATACTTAGGAATAAATTTAACCAAGGAAGAAAAAGATCTGTACACTAAAAACTACAAAACATTGATGAGAGAAATTGTAGAGGACATAAAGATATCCTGTGTTCATGGATTGGAAGAATTAATACTGTTAACATGGTCATACTATTCAAAGCGATCTACAGATTTGTGAAAGTTGTCAAAATCAAAATGGAGTCACTTGTGTCAAA... | TCTGGATACAATATCAATATACAAAACCAGTTACATTCTATACACTTACAACAAGCAATCCAAAAAAGAAATCAAGAAAACAATCCCATTTACAATGGCATCAAAAAGAATAAAATACTTAGGAATAAATTTAACCAAGGAAGAAAAAGATCTGTACACTAAAAACTACAAAACATTGATGAGAGAAATTGTAGAGGACATAAAGATATCCTGTGTTCATGGATTGGAAGAATTAATACTGTTAACATGGTCATACTATTCAAAGCGATCTACAGATTTGTGAAAGTTGTCAAAATCAAAATGGAGTCACTTGTGTCAAA... | pathogenic | 77,025 |
Gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) variant at chromosome 3, position 180659576—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['CCDC39-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | ATTAAAATCAGACAGAAATAACATCCCACTGCACCCCTTTTATGAGCTGTGTACTCATGTCTTGATACAGCTTGCTATTGCCACAAGCAGCTATAAATTAACCTAATAATGCCTCAGCAGATACTATAACCCACACCCTGCAGCTCAACAATGTATAGCCAATCAATAGCTGATGTTATTTCAATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTC... | ATTAAAATCAGACAGAAATAACATCCCACTGCACCCCTTTTATGAGCTGTGTACTCATGTCTTGATACAGCTTGCTATTGCCACAAGCAGCTATAAATTAACCTAATAATGCCTCAGCAGATACTATAACCCACACCCTGCAGCTCAACAATGTATAGCCAATCAATAGCTGATGTTATTTCAATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTC... | pathogenic | 77,027 |
Determine whether the variant at chromosome 3, position 180659737, in gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | ATCAATAGCTGATGTTATTTCAATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTCAAGCTTGGCCAAAAGAAACTCTGCTTCCATTAATTTTGCTTCAGCTTCTTCCTTGTAAGTCAACAGCTTAATGTTTGAAAGCAATGAGAAGTTAAGAAATATTAATAGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGGT... | ATCAATAGCTGATGTTATTTCAATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTCAAGCTTGGCCAAAAGAAACTCTGCTTCCATTAATTTTGCTTCAGCTTCTTCCTTGTAAGTCAACAGCTTAATGTTTGAAAGCAATGAGAAGTTAAGAAATATTAATAGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGGT... | pathogenic | 77,031 |
Gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) variant at chromosome 3, position 180659758—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | AATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTCAAGCTTGGCCAAAAGAAACTCTGCTTCCATTAATTTTGCTTCAGCTTCTTCCTTGTAAGTCAACAGCTTAATGTTTGAAAGCAATGAGAAGTTAAGAAATATTAATAGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGGTGGATTGCCTGCGGTCAGGAGT... | AATGTAAATTCTTGATAAACAACTCAGGAACTCGCTCTTTTTTCCCTCTTTAAAAATCAACTTGTAACTGCTGCTAATTGGAGTGTATATTCAGGGCAACTTGAATCTATACTCCCAGGTTCCCAGGAATCAATCCTCAAGCTTGGCCAAAAGAAACTCTGCTTCCATTAATTTTGCTTCAGCTTCTTCCTTGTAAGTCAACAGCTTAATGTTTGAAAGCAATGAGAAGTTAAGAAATATTAATAGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGGTGGATTGCCTGCGGTCAGGAGT... | pathogenic | 77,033 |
Evaluate if the mutation on chromosome 3 at position 180662000 in CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | ATAGCTGCATAAAAACTCAATTGTTTCTAAAATGACTTTTAATATTTTTAAAGTAAATTAGAAAAAAGATTAAGTTATAATTTCCTATTTGAAAGTTTTAAAATAATGCATTGGTATTAAATCTACTAGAAAATAGCATGTTTTATAATACTAGCTTTATTAGTATCACCAGATATAAGTAGATTTTAAGTGATTTTTATAACATAATCAATAGCACTACAGTCTCAAATCAGCAAAAACTACATGTAATATTCAAACTACATTTTAGGCAAAATAGCTAAAATATATTAAAATAGTTCTAGTGGAAAACTTTCTCTTCT... | ATAGCTGCATAAAAACTCAATTGTTTCTAAAATGACTTTTAATATTTTTAAAGTAAATTAGAAAAAAGATTAAGTTATAATTTCCTATTTGAAAGTTTTAAAATAATGCATTGGTATTAAATCTACTAGAAAATAGCATGTTTTATAATACTAGCTTTATTAGTATCACCAGATATAAGTAGATTTTAAGTGATTTTTATAACATAATCAATAGCACTACAGTCTCAAATCAGCAAAAACTACATGTAATATTCAAACTACATTTTAGGCAAAATAGCTAAAATATATTAAAATAGTTCTAGTGGAAAACTTTCTCTTCT... | pathogenic | 77,045 |
Is chromosome 3, position 180679306, gene CCDC39 (coiled-coil domain 39 molecular ruler complex subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_14'] | GGATAAAATCCAGCCAGCCAAAAGACAAATCAAAATGAAAAGTTCAAGAAAGATAAACTGAATAAAAGTGACTGCGGTAAGGACCATTAAAGCAAATCAAGTATAAAACTAACACTAAACACTTGTGATAAATTAAGGGCATTGAATCAAATGCAAATAAAACTTGATAATATTAAAAATGATAAAACCATTATTTTTAATAGGGGAAAAGGAGGTGGGAAAATGTGTAAGAGTGCTAACTTATTCTTTAAAATCAGAGACATTCAGTAATCTATATTTGAAATATAGAGTTCTTAGAAACATTAACCATTTAATTTTTT... | GGATAAAATCCAGCCAGCCAAAAGACAAATCAAAATGAAAAGTTCAAGAAAGATAAACTGAATAAAAGTGACTGCGGTAAGGACCATTAAAGCAAATCAAGTATAAAACTAACACTAAACACTTGTGATAAATTAAGGGCATTGAATCAAATGCAAATAAAACTTGATAATATTAAAAATGATAAAACCATTATTTTTAATAGGGGAAAAGGAGGTGGGAAAATGTGTAAGAGTGCTAACTTATTCTTTAAAATCAGAGACATTCAGTAATCTATATTTGAAATATAGAGTTCTTAGAAACATTAACCATTTAATTTTTT... | pathogenic | 77,051 |
Considering the variant on chromosome 3, location 181712413, involving gene SOX2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Anophthalmia/microphthalmia-esophageal_atresia_syndrome'] | CCCTTTGTAGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTC... | CCCTTTGTAGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTC... | pathogenic | 77,078 |
Gene SOX2 variant at chromosome 3, position 181712418—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Anophthalmia/microphthalmia-esophageal_atresia_syndrome', 'SOX2-related_disorder', 'Septo-optic_dysplasia_sequence'] | TGTAGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCA... | TGTAGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCA... | pathogenic | 77,079 |
Does the variant on chromosome 3 at location 181712421 affecting gene SOX2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Anophthalmia/microphthalmia-esophageal_atresia_syndrome', 'Inborn_genetic_diseases'] | AGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTG... | AGTCAAGTGCATTTTAGCCACAAAGATCCCAACAAGAGAGTGGAAGGAAACTTAGACGAGGCTTTGTTTGACTCCGTGTAGCGACAACAAGAGAAACAAAACTACCTATTTGTAACGGACGTGCTGCCATTGCCCTCCGCATTGAGCGCCTACCTATTGAAATCTTTACGTCGGGACAATGGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTG... | pathogenic | 77,080 |
A genetic variant on chromosome 3, position 181712601, affects the gene SOX2. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Anophthalmia/microphthalmia-esophageal_atresia_syndrome'] | GGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTT... | GGGAGAGCGGCTAAAATTACCCTCTTGGGTCCTGGGCGGGCAAGATTCCTGAGCCCCTACCCCCGCCCCCATCTCATCCTCCTCTAACCCGGGCCTTGCTGGGCTCCCCCTTCCCCAGTCCCGGCCGCCTTCTCCCAGTGTGCGCTGCCTGCACCTGTGCCTGGAGAGCATCGACCCCGCCTCCCAGGCCTTGAGCCCCTTTGCGGCGCAGCCCCAGCCTTGCGCGGCCTGGGCTTTGCGGCCACCACAATGGAAATCTACGGGGAAAATGCCAGGGCTGGTTCTGCTGGAGTCCTGGGAACTCTGCGTGGGAGGGAGTT... | pathogenic | 77,082 |
Determine if the mutation at chromosome 3, position 183015527 in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | CTTTTCCCTCTATTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTACCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCGGCTTCCCAAGTAGCTGGGACTACAGGCGCGTATCACCATGCCCAGCTAATCTTTGTATATGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTTGTGATCCGCCTGCCTCAGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCTTTTCCCT... | CTTTTCCCTCTATTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTACCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCGGCTTCCCAAGTAGCTGGGACTACAGGCGCGTATCACCATGCCCAGCTAATCTTTGTATATGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTTGTGATCCGCCTGCCTCAGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCTTTTCCCT... | pathogenic | 77,099 |
Is the genetic change at chromosome 3, position 183015536, within gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'MCCC1-related_disorder', 'Methylcrotonyl-CoA_carboxylase_deficiency'] | CTATTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTACCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCGGCTTCCCAAGTAGCTGGGACTACAGGCGCGTATCACCATGCCCAGCTAATCTTTGTATATGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTTGTGATCCGCCTGCCTCAGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCTTTTCCCTCTTTTAAAC... | CTATTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTACCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCGGCTTCCCAAGTAGCTGGGACTACAGGCGCGTATCACCATGCCCAGCTAATCTTTGTATATGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTTGTGATCCGCCTGCCTCAGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCTTTTCCCTCTTTTAAAC... | pathogenic | 77,101 |
A genetic alteration at chromosome 3, position 183020101, in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC... | TGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC... | pathogenic | 77,111 |
Regarding the variant found on chromosome 3 at position 183020201 in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'Methylcrotonyl-CoA_carboxylase_deficiency'] | GGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGT... | GGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGT... | pathogenic | 77,114 |
For chromosome 3, position 183022421, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TGTAAACCCAGCACTTTGGGAGGCTGAGGTAGGCAGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATAGCGAAACCTCATCTCTACAAAAAATACAAAAATCAGCCCAGTGTAGTGGTACGCGCCTATAGTCCCAGCTACTTGGGAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTAGAGGCTGCAGTGAGCTAAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCAAAAAAAAAAATAAATTAGTCACCATTAATACCAGGGTTCTAATCTAGCTTTATGACCTTGA... | TGTAAACCCAGCACTTTGGGAGGCTGAGGTAGGCAGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATAGCGAAACCTCATCTCTACAAAAAATACAAAAATCAGCCCAGTGTAGTGGTACGCGCCTATAGTCCCAGCTACTTGGGAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTAGAGGCTGCAGTGAGCTAAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCAAAAAAAAAAATAAATTAGTCACCATTAATACCAGGGTTCTAATCTAGCTTTATGACCTTGA... | pathogenic | 77,117 |
For chromosome 3, position 183022493, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | AATATAGCGAAACCTCATCTCTACAAAAAATACAAAAATCAGCCCAGTGTAGTGGTACGCGCCTATAGTCCCAGCTACTTGGGAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTAGAGGCTGCAGTGAGCTAAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCAAAAAAAAAAATAAATTAGTCACCATTAATACCAGGGTTCTAATCTAGCTTTATGACCTTGAGCAAATTATTAAACCTCTCTCAGCCTTGGTTTCCCATTGTAAAGGCGTAACGGTATACATGCCTCACAGTAT... | AATATAGCGAAACCTCATCTCTACAAAAAATACAAAAATCAGCCCAGTGTAGTGGTACGCGCCTATAGTCCCAGCTACTTGGGAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTAGAGGCTGCAGTGAGCTAAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACTCAAAAAAAAAAATAAATTAGTCACCATTAATACCAGGGTTCTAATCTAGCTTTATGACCTTGAGCAAATTATTAAACCTCTCTCAGCCTTGGTTTCCCATTGTAAAGGCGTAACGGTATACATGCCTCACAGTAT... | pathogenic | 77,118 |
Considering the genetic mutation at chromosome 3, position 183025753, impacting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TCTGCAGGATTTGACATCTCTTAGCTCATATTAAAAATGATTTATTCTATTCCCTGAAGTTGTACCTTACTATAGGAATTTGATTGAATTCCCACTTTTTTTTTTAAACCATTTAAGCATTCCATTTTGCCAATGTAATGGTCTTCTTCTAATTGAGGATTACCATGAACTTTACACTAGAGGTTCTCAAAATATGACCTATGTGTTCCTTGGGGTCCCTAATACCCTTTTAGGGCATCCACAAAGTCATAATAAGACTAAGAAGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGG... | TCTGCAGGATTTGACATCTCTTAGCTCATATTAAAAATGATTTATTCTATTCCCTGAAGTTGTACCTTACTATAGGAATTTGATTGAATTCCCACTTTTTTTTTTAAACCATTTAAGCATTCCATTTTGCCAATGTAATGGTCTTCTTCTAATTGAGGATTACCATGAACTTTACACTAGAGGTTCTCAAAATATGACCTATGTGTTCCTTGGGGTCCCTAATACCCTTTTAGGGCATCCACAAAGTCATAATAAGACTAAGAAGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGG... | pathogenic | 77,122 |
Does the variant on chromosome 3 at location 183033992 affecting gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'MCCC1-related_disorder'] | CAGGTGTGAGCCACTGTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGA... | CAGGTGTGAGCCACTGTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGA... | pathogenic | 77,127 |
Considering the genetic mutation at chromosome 3, position 183033992, impacting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | CAGGTGTGAGCCACTGTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGA... | CAGGTGTGAGCCACTGTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGA... | pathogenic | 77,128 |
Benign or pathogenic: chromosome 3, position 183034007, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | GTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATAT... | GTGACCAGCCTGGTCTCTTAAGCTTCCTGTTTCATGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATAT... | pathogenic | 77,129 |
Considering the genetic mutation at chromosome 3, position 183034041, impacting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATATGTAATTCTTCTGTTCAATTCAGGTTGAAGAAGCC... | TGCATTCTATTTAATTGTGGTCATTGCTTATTAGCATTTTTTGGAGACTTAGCTATGTATCATTTTCTGAAAGCTCTTACATACAGACTTGGATTATTTTCATAGAATACTGCCAAAAGGGTGTAGTGAACAGCAATCATGTTGGCTTTTCAATTATGTATTTATTTTTTCATGAAAACTTTTTTTAATTCCAAAAAATGCAACATACTTCAAATCAGTGCTTGGTGCTTTAGTGAAGAGCCATGCCAAATAACACAGTTGGCCTATATGAATTACAATCAAATATGTAATTCTTCTGTTCAATTCAGGTTGAAGAAGCC... | pathogenic | 77,130 |
The chromosome 3, position 183037267 genetic variant in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TCCATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTG... | TCCATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTG... | pathogenic | 77,137 |
Is chromosome 3, position 183037270, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | ATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCAT... | ATTCTAAAAACGTTAAGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCAT... | pathogenic | 77,138 |
Regarding the variant at chromosome 3 and position 183037285, affecting gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'Methylcrotonyl-CoA_carboxylase_deficiency'] | AGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCT... | AGGTCAGGCTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCT... | pathogenic | 77,140 |
Gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant at chromosome 3, position 183037293—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | CTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCTTAGCATCC... | CTCAGGAATACCACATGGGACGTATTTAGATGCATTTTCATTCAATGTAAAAGGATAAAATGAGGATAGAGCACAAATCTTCTAAAGATGCAGTTTTCGGGACTTAAAACATTTTACATTTTAAGCTTTCCATACAGCTATCTTGAATGAATCTAAATGAATTCAGAAATTAAAGATTCTAATGATAGGATCCTATAATAATACGGGTTCAGTATCACTTACCCAAAATGCTTGGGACCAGAAGTGTTTTGAATTTCAGATTTTTTTTTTTTTTTTTGGATTTTGGATTATTTGCATTATATTTAACTGGCTTAGCATCC... | pathogenic | 77,141 |
Assess the variant on chromosome 3, position 183039039, impacting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | AATGTTAGGTGATTAGTTACACTCCAGTTAATGGGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCT... | AATGTTAGGTGATTAGTTACACTCCAGTTAATGGGTTAAATAGTGTTTATGGGTGCATCCATGGTAAGTGAAGAGCTTTCCTTCATACTAAAAAACACATCTGAAAAGAATGGTGTCAGTCACTGAGAGGAGAAAAGAGAGGTCAGTGTGCCATACAGAAAGAAAAGCATGTTCAATGATGATTTGCAAAACTTGACAAGCAGAGGAAAGAGAAAAGCCTTCCATACCATGTGCCTGAAGAGTGAAAGTGTCGGTCATGGCTTTCTCCTTGAGGATGAGACCCAGGGCTGCCTGGCATAAAGACTCTTTGGCTGCAGCCT... | pathogenic | 77,147 |
Considering the genetic mutation at chromosome 3, position 183041570, impacting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TAGTCAAGCAAGTTTAATAATTCCTCTGTCCTGCAGGGTTGCTGGGAGGAGTGACAATAAAGTGACAAGTGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTA... | TAGTCAAGCAAGTTTAATAATTCCTCTGTCCTGCAGGGTTGCTGGGAGGAGTGACAATAAAGTGACAAGTGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTA... | pathogenic | 77,156 |
Determine if the mutation at chromosome 3, position 183041570 in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'MCCC1-related_disorder'] | TAGTCAAGCAAGTTTAATAATTCCTCTGTCCTGCAGGGTTGCTGGGAGGAGTGACAATAAAGTGACAAGTGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTA... | TAGTCAAGCAAGTTTAATAATTCCTCTGTCCTGCAGGGTTGCTGGGAGGAGTGACAATAAAGTGACAAGTGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTA... | pathogenic | 77,157 |
Variant in MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), chromosome 3, position 183041639—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAAC... | TGCCATACCTGGCAAAACTGATAAACCAATGGCAGCTATCATCACTGGGATGGTTACAGTCCTAGAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAAC... | pathogenic | 77,160 |
Considering the variant on chromosome 3, location 183041703, involving gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | GAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGT... | GAGAACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGT... | pathogenic | 77,162 |
Variant on chromosome 3, at position 183041707, affecting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | ACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATT... | ACAAGAATCTGAACCAGGGCACATTCCACTGGTTAGAAATGGTTCAAGTAGAAAGGATGTGGTGTGTTGAAAAGAACGTTGTTGCAGGGTCTTTCCAGGATTTTGGCAGGTCACTTGACCTCTTTGAACCCCAGAGTCCTCGTTGATAAGATTAGAGGTGCCTACAGGTGGCTCACGCCTGTACTCCCAAGACTTTGGGAGGCCGAGGTGGGCAGATCACAAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATT... | pathogenic | 77,163 |
Variant on chromosome 3, at position 183045397, affecting MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCCCAGAAAAGACAGGCCCCAATCATGCCTCTGGGTCTTTGGAGATATGTGCCATTTGAGTTCTCTCAGGCTGACACTGGCTCTCCGGAACCCCTAACCTTGACATTTTCACCAGCTTTCCCTGAACACTGTTAACTATCTGTATCTGCAGCCTGAACCCAGGACACTTACATCAGTCATCATTCAACCCTTGTTCTAGGAAGGCTTGACTGCACAGGCAGGTCCTCGAGCTTAGACTCTTGACTCACCAAATGGTGAGCCCCTTTGTTTTACCTCTGTTTGAAGGCCAGATGCCAAATGCCTTGAACTCTATAAACCAG... | GCCCAGAAAAGACAGGCCCCAATCATGCCTCTGGGTCTTTGGAGATATGTGCCATTTGAGTTCTCTCAGGCTGACACTGGCTCTCCGGAACCCCTAACCTTGACATTTTCACCAGCTTTCCCTGAACACTGTTAACTATCTGTATCTGCAGCCTGAACCCAGGACACTTACATCAGTCATCATTCAACCCTTGTTCTAGGAAGGCTTGACTGCACAGGCAGGTCCTCGAGCTTAGACTCTTGACTCACCAAATGGTGAGCCCCTTTGTTTTACCTCTGTTTGAAGGCCAGATGCCAAATGCCTTGAACTCTATAAACCAG... | benign | 77,165 |
A genetic alteration at chromosome 3, position 183045421, in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | ATGCCTCTGGGTCTTTGGAGATATGTGCCATTTGAGTTCTCTCAGGCTGACACTGGCTCTCCGGAACCCCTAACCTTGACATTTTCACCAGCTTTCCCTGAACACTGTTAACTATCTGTATCTGCAGCCTGAACCCAGGACACTTACATCAGTCATCATTCAACCCTTGTTCTAGGAAGGCTTGACTGCACAGGCAGGTCCTCGAGCTTAGACTCTTGACTCACCAAATGGTGAGCCCCTTTGTTTTACCTCTGTTTGAAGGCCAGATGCCAAATGCCTTGAACTCTATAAACCAGGTCCAGCAGCTTCCCTAAGTTCTA... | ATGCCTCTGGGTCTTTGGAGATATGTGCCATTTGAGTTCTCTCAGGCTGACACTGGCTCTCCGGAACCCCTAACCTTGACATTTTCACCAGCTTTCCCTGAACACTGTTAACTATCTGTATCTGCAGCCTGAACCCAGGACACTTACATCAGTCATCATTCAACCCTTGTTCTAGGAAGGCTTGACTGCACAGGCAGGTCCTCGAGCTTAGACTCTTGACTCACCAAATGGTGAGCCCCTTTGTTTTACCTCTGTTTGAAGGCCAGATGCCAAATGCCTTGAACTCTATAAACCAGGTCCAGCAGCTTCCCTAAGTTCTA... | pathogenic | 77,166 |
Benign or pathogenic: chromosome 3, position 183052245, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant? Disease(s) if pathogenic? | benign | TAAAAAAAGAGAATCTGAATAGCTATATTTATTAAAGAGATTAAGTCAATAATTAATAACCTTCCAAAACAGAAAGCACAAGGCCAGCTGAGTATAATATAACCTAGACAAGCTTGAGTATGGTGATGACTTTTTATATACAACACCAAAGGCATGATCTACAAATAATTTATATACTGGACTTCATTAAAACTTAAAACTTCTGCTCTGTGAAAAGGAAAGTCGGCCGGGCGCGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAAGAGTTTGAGATCAGCCTGGCTA... | TAAAAAAAGAGAATCTGAATAGCTATATTTATTAAAGAGATTAAGTCAATAATTAATAACCTTCCAAAACAGAAAGCACAAGGCCAGCTGAGTATAATATAACCTAGACAAGCTTGAGTATGGTGATGACTTTTTATATACAACACCAAAGGCATGATCTACAAATAATTTATATACTGGACTTCATTAAAACTTAAAACTTCTGCTCTGTGAAAAGGAAAGTCGGCCGGGCGCGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAAGAGTTTGAGATCAGCCTGGCTA... | benign | 77,173 |
Is the genetic variant on chromosome 3, position 183052245, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAAAAAAAGAGAATCTGAATAGCTATATTTATTAAAGAGATTAAGTCAATAATTAATAACCTTCCAAAACAGAAAGCACAAGGCCAGCTGAGTATAATATAACCTAGACAAGCTTGAGTATGGTGATGACTTTTTATATACAACACCAAAGGCATGATCTACAAATAATTTATATACTGGACTTCATTAAAACTTAAAACTTCTGCTCTGTGAAAAGGAAAGTCGGCCGGGCGCGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAAGAGTTTGAGATCAGCCTGGCTA... | TAAAAAAAGAGAATCTGAATAGCTATATTTATTAAAGAGATTAAGTCAATAATTAATAACCTTCCAAAACAGAAAGCACAAGGCCAGCTGAGTATAATATAACCTAGACAAGCTTGAGTATGGTGATGACTTTTTATATACAACACCAAAGGCATGATCTACAAATAATTTATATACTGGACTTCATTAAAACTTAAAACTTCTGCTCTGTGAAAAGGAAAGTCGGCCGGGCGCGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAAGAGTTTGAGATCAGCCTGGCTA... | benign | 77,174 |
Determine if the mutation at chromosome 3, position 183057311 in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TTAGCCGGGTGTGGTGGTGGGTGCCTTAATCCCAGCTACTTGGGAGGCTGAGGCACAGAACTGCTTAAACCCGCGAGGCGGAGGATGCAGTGAGCTGAGATCGCGCCACTGCACTCCGGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAGGATAAAAAGCTAATATTATATACTTCATCAAAAACTGTCCTATGATAGTTTAACTGTCAATATACCAAAGTTTAATGATTCTGCTACTAATTTCTATGCATTGCAGATATTACTCAGCATAATTACGTATCTTTGTCCCTTGTATCTACATGACAGCTTTCAT... | TTAGCCGGGTGTGGTGGTGGGTGCCTTAATCCCAGCTACTTGGGAGGCTGAGGCACAGAACTGCTTAAACCCGCGAGGCGGAGGATGCAGTGAGCTGAGATCGCGCCACTGCACTCCGGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAGGATAAAAAGCTAATATTATATACTTCATCAAAAACTGTCCTATGATAGTTTAACTGTCAATATACCAAAGTTTAATGATTCTGCTACTAATTTCTATGCATTGCAGATATTACTCAGCATAATTACGTATCTTTGTCCCTTGTATCTACATGACAGCTTTCAT... | pathogenic | 77,176 |
Does the genetic variant at chromosome 3, position 183057330, impacting gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | GGTGCCTTAATCCCAGCTACTTGGGAGGCTGAGGCACAGAACTGCTTAAACCCGCGAGGCGGAGGATGCAGTGAGCTGAGATCGCGCCACTGCACTCCGGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAGGATAAAAAGCTAATATTATATACTTCATCAAAAACTGTCCTATGATAGTTTAACTGTCAATATACCAAAGTTTAATGATTCTGCTACTAATTTCTATGCATTGCAGATATTACTCAGCATAATTACGTATCTTTGTCCCTTGTATCTACATGACAGCTTTCATAACTATATGTCCACTTATA... | GGTGCCTTAATCCCAGCTACTTGGGAGGCTGAGGCACAGAACTGCTTAAACCCGCGAGGCGGAGGATGCAGTGAGCTGAGATCGCGCCACTGCACTCCGGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAGGATAAAAAGCTAATATTATATACTTCATCAAAAACTGTCCTATGATAGTTTAACTGTCAATATACCAAAGTTTAATGATTCTGCTACTAATTTCTATGCATTGCAGATATTACTCAGCATAATTACGTATCTTTGTCCCTTGTATCTACATGACAGCTTTCATAACTATATGTCCACTTATA... | pathogenic | 77,177 |
Does the genetic variant at chromosome 3, position 183071058, impacting gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | ATGACTGTATATAAGAATATTAATAATAATTAGGAGAATACAATTATGGGTTGTTTTCCATCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACAT... | ATGACTGTATATAAGAATATTAATAATAATTAGGAGAATACAATTATGGGTTGTTTTCCATCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACAT... | pathogenic | 77,182 |
Variant chromosome 3, position 183071075, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TATTAATAATAATTAGGAGAATACAATTATGGGTTGTTTTCCATCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCT... | TATTAATAATAATTAGGAGAATACAATTATGGGTTGTTTTCCATCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCT... | pathogenic | 77,183 |
For chromosome 3, position 183071118, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'Methylcrotonyl-CoA_carboxylase_deficiency'] | TCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGT... | TCTTCTGCATTTTCCAAAAATTTGTAATGTATTCATATTACTTCTATAGTTCAAAAAATATTACTGATGCCTATTACAAGGAAAGTAGTATGCCAGGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGT... | pathogenic | 77,186 |
Mutation at chromosome 3, position 183071213, within MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | GGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCC... | GGCAATATATACAAAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCC... | pathogenic | 77,191 |
Benign or pathogenic: chromosome 3, position 183071226, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | AAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCT... | AAAAATAAAAATGTATATACTACCAGGTCTTTGATTCCCAGGGGCTTTCCAGCTATTGGGGGAATAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCT... | pathogenic | 77,192 |
Clinically, how would you classify the variant at chromosome 3, position 183071290, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency', 'Methylcrotonyl-CoA_carboxylase_deficiency'] | TAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAA... | TAAATTATAATGTGACGCAATGTATGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAA... | pathogenic | 77,193 |
Clinically, how would you classify the variant at chromosome 3, position 183071314, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAACAATTTGGGGGTCTTCTCTAAGGA... | TGGCTAACATTTCATAAGTAAAGAACTTACATATTCAAAAAATGCTGCAGGCATGGAGTTACATAATAACTCAAATAAGCTATTGATGTCTCTGAAATAAGTTACTGAAATAAGCTATTGATGTCTCCACAATTCTAACTTAAGAGCATGCTGATTTGGATGGCTAGCCTATTCTTTCTTGAAAGGAAGCCTTCAATGTACCTTAGAAATGCCCCCCCCTTTTTTTTTGCCTTAATTGAATTTCATTTACTATGCCATGCTCAGGACAGTTGTTTTATAGGGCCTGAAACAAAAAACAATTTGGGGGTCTTCTCTAAGGA... | pathogenic | 77,195 |
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