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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 12, position 88086091, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TCTAAAATTCCTTTGAGATGAGGAAGAAACAGTATCTCCATATATGTATGTATCTAGACTGGTATGCATGTCCCCTCAGACAATGTTCAAGTTGACAAGCCCAGCCTCAGTTCATAATTTATTCTTAACATTAGAATGACATGTATCTATCATCTTTTAACTTACTTCTAGAAAAAATTAAATGTTAGCTTTCCCCCACGAAGTTCTAACAAATCTGATTTCTACTGATTACCGGTGTGATATATTTCATTCCACCCTATTGCCTCAATCCTCACCTATAAACTCAATTAAAATATTTTTCAAAATCATATGATTTCACC... | TCTAAAATTCCTTTGAGATGAGGAAGAAACAGTATCTCCATATATGTATGTATCTAGACTGGTATGCATGTCCCCTCAGACAATGTTCAAGTTGACAAGCCCAGCCTCAGTTCATAATTTATTCTTAACATTAGAATGACATGTATCTATCATCTTTTAACTTACTTCTAGAAAAAATTAAATGTTAGCTTTCCCCCACGAAGTTCTAACAAATCTGATTTCTACTGATTACCGGTGTGATATATTTCATTCCACCCTATTGCCTCAATCCTCACCTATAAACTCAATTAAAATATTTTTCAAAATCATATGATTTCACC... | pathogenic | 200,420 |
Does the variant impacting CEP290 (centrosomal protein 290) on chromosome 12, position 88087814, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Joubert_syndrome_5', 'Retinal_dystrophy'] | ATATTGCTCATAGAACTACAATTAAATGCTTTTTATTTCCTTTCATATTCAGTGTACCGAAAGGTACCAACTAATAATTAAATAGTGAATTCAAATTAACTATATCTGCTGTTCATTATTGGCTATTAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAA... | ATATTGCTCATAGAACTACAATTAAATGCTTTTTATTTCCTTTCATATTCAGTGTACCGAAAGGTACCAACTAATAATTAAATAGTGAATTCAAATTAACTATATCTGCTGTTCATTATTGGCTATTAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAA... | pathogenic | 200,423 |
Variant at chromosome 12, position 88087857, gene CEP290 (centrosomal protein 290): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CATATTCAGTGTACCGAAAGGTACCAACTAATAATTAAATAGTGAATTCAAATTAACTATATCTGCTGTTCATTATTGGCTATTAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAATGTTCTCCTTAATTTTCCTTAGAGCGATCTCAAGTTGATTTGG... | CATATTCAGTGTACCGAAAGGTACCAACTAATAATTAAATAGTGAATTCAAATTAACTATATCTGCTGTTCATTATTGGCTATTAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAATGTTCTCCTTAATTTTCCTTAGAGCGATCTCAAGTTGATTTGG... | pathogenic | 200,425 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88087940, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAATGTTCTCCTTAATTTTCCTTAGAGCGATCTCAAGTTGATTTGGAAGGGGCAAACTAGGGTCAGGGATTGATCCTGTAGCTTCTTCAAACTATTAAGAAATAGTATGTTTTTTAAAAAAGCAGTTGC... | TAGAAACATTATAGGAGAATAGAAAAATAGTGAAATTAGCAATAGATTCATCATTCTATGCATTGCCCTCATAAAGAAATATTATTTAGAAAGCCCCCCAAACATACCAAATAATACACTAATCAAAATGCAAATTCTTCTAATTACCTCTTCTAGTGATTTGCAAGTTGCCCGTGTTTCTAGAATTATTCGAATGTTCTCCTTAATTTTCCTTAGAGCGATCTCAAGTTGATTTGGAAGGGGCAAACTAGGGTCAGGGATTGATCCTGTAGCTTCTTCAAACTATTAAGAAATAGTATGTTTTTTAAAAAAGCAGTTGC... | pathogenic | 200,430 |
Regarding the variant found on chromosome 12 at position 88089032 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TTAGGTGGCTGGTGAAGGATACACTGATAAGGTAAGACATTTGAGCTAAGACCTGCAGGCACTGACAGTGTAAATACCAAAGGTATCTAGGGTAAGAACAATTTAAGCAGGGGGAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTA... | TTAGGTGGCTGGTGAAGGATACACTGATAAGGTAAGACATTTGAGCTAAGACCTGCAGGCACTGACAGTGTAAATACCAAAGGTATCTAGGGTAAGAACAATTTAAGCAGGGGGAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTA... | pathogenic | 200,432 |
Considering the genetic mutation at chromosome 12, position 88089143, impacting CEP290 (centrosomal protein 290): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GGGAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACA... | GGGAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACA... | pathogenic | 200,436 |
Is the genetic variant on chromosome 12, position 88089145, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | GAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATA... | GAACAATCTCTGAGACAGTCATATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATA... | pathogenic | 200,437 |
Does the chromosome 12 mutation at position 88089166 within gene CEP290 (centrosomal protein 290) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTG... | TATGTTTGACGAATTTCATCTGTCTCTGAAGTATATACTTTATTCTATAAGAAGCTGACTTCTTACTCTATCAGTGAGAGCCAGTAGAAACGTGGAACTGTGAAAAGTCAAATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTG... | pathogenic | 200,439 |
The genetic variant at chromosome 12, position 88089277, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCG... | ATAACCAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCG... | pathogenic | 200,445 |
Chromosome 12, position 88089282, gene CEP290 (centrosomal protein 290): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCT... | CAATATCAAAATAAAAATTAACTTACCAAATGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCT... | pathogenic | 200,446 |
Clinical classification of chromosome 12, position 88089312, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACG... | TGAGGTTGCTTATGTATTGCCGTTTTTAAGATTAAGACTACTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACG... | pathogenic | 200,447 |
Is chromosome 12, position 88089352, gene CEP290 (centrosomal protein 290) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Renal_dysplasia_and_retinal_aplasia'] | CTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG... | CTGTTATAAAAGCTAAATAAATATGAATTTTTAGAATAGTTTAGAAAATAAAAAACAAATTATTATATAATCAATTAGTAATGGAAGGTGCACTTAATTAGAAGGATAACATAGTCATTTGTGCAATATTCTTGTTTAAAATCTTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG... | pathogenic | 200,452 |
Gene mutation in CEP290 (centrosomal protein 290) at chromosome 12, position 88089495—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTTAGGGAAAAAAATGAAATAAA... | TTAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTTAGGGAAAAAAATGAAATAAA... | benign | 200,457 |
Is the variant located on chromosome 12 at position 88090806, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ACCAAAGCAGGAGGATTACTTGAAGCCAGGAGTTCAAGGCCAGCCTGGGTGACAAAGTGAGACCTTGTCTCTACAAAAAAATTTAAAAATTTTAAAAAATTAGGTAGGTATGGTGGTGTGCACCTGTACTGCCAGCTACAACTACTCAGGAGGCTGAGGCTAGAGAGTCCCTTGAGCCCAGGAGTTCCAGCTATGTTTGCACCACTGAACTCCAGCCTGGGAAACAGATCAAGATACTGTCTCTTAAAAAAAAAAATCAAGTTTAAATGTTTACCTTTTGGGCTCCTTTGGTATCCTTTAAAGTGCTTATTAACTCTTCC... | ACCAAAGCAGGAGGATTACTTGAAGCCAGGAGTTCAAGGCCAGCCTGGGTGACAAAGTGAGACCTTGTCTCTACAAAAAAATTTAAAAATTTTAAAAAATTAGGTAGGTATGGTGGTGTGCACCTGTACTGCCAGCTACAACTACTCAGGAGGCTGAGGCTAGAGAGTCCCTTGAGCCCAGGAGTTCCAGCTATGTTTGCACCACTGAACTCCAGCCTGGGAAACAGATCAAGATACTGTCTCTTAAAAAAAAAAATCAAGTTTAAATGTTTACCTTTTGGGCTCCTTTGGTATCCTTTAAAGTGCTTATTAACTCTTCC... | pathogenic | 200,459 |
The chromosome 12, position 88092680 genetic variant in gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa'] | AACAAACAAAAAGTATAACATATCCCACTCCCAACATCTAATGTAAATTTAGGGAAAAAAGTGGATTCTATGTAGAAGAGCCAATACTGCACATACCTGATAGTCTAGCAGTTGCATTCTGAGGGACTCTACTTCCTTGTCCCTAGATTGTTGTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATC... | AACAAACAAAAAGTATAACATATCCCACTCCCAACATCTAATGTAAATTTAGGGAAAAAAGTGGATTCTATGTAGAAGAGCCAATACTGCACATACCTGATAGTCTAGCAGTTGCATTCTGAGGGACTCTACTTCCTTGTCCCTAGATTGTTGTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATC... | pathogenic | 200,461 |
Benign or pathogenic: chromosome 12, position 88092719, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AATGTAAATTTAGGGAAAAAAGTGGATTCTATGTAGAAGAGCCAATACTGCACATACCTGATAGTCTAGCAGTTGCATTCTGAGGGACTCTACTTCCTTGTCCCTAGATTGTTGTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATCTCTTCTTTGTATGAAATATTAAAACAGGATTTCCTAAAC... | AATGTAAATTTAGGGAAAAAAGTGGATTCTATGTAGAAGAGCCAATACTGCACATACCTGATAGTCTAGCAGTTGCATTCTGAGGGACTCTACTTCCTTGTCCCTAGATTGTTGTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATCTCTTCTTTGTATGAAATATTAAAACAGGATTTCCTAAAC... | pathogenic | 200,464 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88092832, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATCTCTTCTTTGTATGAAATATTAAAACAGGATTTCCTAAACTGTTTCATGAAACATAATTCCATCAGAGGTTATCATGTTTGCTATATAAAAAAAACTTCATTCTCAACATCCCTCCTCCCTCTTGAATATTCCTAACATATATTCAGTGCTCC... | GTTGTGCATTCAAAATTTCAACTTGTCTTCTGGCAATATCAGAAATCTCTCTCAGTCTAGGAAATGATAAGGTATTTCAGGAACAATTAAGTACACTTTCTAAGTAAATGCCAAAATTCAAAATTTCTAGACCCTTTTTCAAAAAGCCATTCGTTTTCAGCATCTATCTCTTCTTTGTATGAAATATTAAAACAGGATTTCCTAAACTGTTTCATGAAACATAATTCCATCAGAGGTTATCATGTTTGCTATATAAAAAAAACTTCATTCTCAACATCCCTCCTCCCTCTTGAATATTCCTAACATATATTCAGTGCTCC... | pathogenic | 200,466 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 88093793, gene CEP290 (centrosomal protein 290). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CCAAAGGAATGGTTATATTTTTATGAGTAGGCCATAAAATATTTTTACTATTTATGCTTGACAGATTAACTAAGTGCTCCTTATACTTTTCTACTGAAATATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTC... | CCAAAGGAATGGTTATATTTTTATGAGTAGGCCATAAAATATTTTTACTATTTATGCTTGACAGATTAACTAAGTGCTCCTTATACTTTTCTACTGAAATATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTC... | pathogenic | 200,469 |
Variant at chromosome position 88093866, chromosome 12, gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis'] | GTGCTCCTTATACTTTTCTACTGAAATATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCT... | GTGCTCCTTATACTTTTCTACTGAAATATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCT... | pathogenic | 200,473 |
Determine if the mutation at chromosome 12, position 88093893 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | ATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAA... | ATCACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAA... | pathogenic | 200,474 |
Regarding the variant found on chromosome 12 at position 88093896 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | ACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCT... | ACCTAATTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCT... | pathogenic | 200,475 |
Determine if the mutation at chromosome 12, position 88093902 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_the_nervous_system', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGT... | TTACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGT... | pathogenic | 200,476 |
Does the genetic variant at chromosome 12, position 88093903, impacting gene CEP290 (centrosomal protein 290), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Retinal_dystrophy'] | TACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTT... | TACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTT... | pathogenic | 200,477 |
Mutation at chromosome 12, position 88093903, within CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTT... | TACAAAAGAGAATGAAAATACAGCATATAGCTGGCACACGGTTTTTTTGTTTTGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTT... | pathogenic | 200,478 |
Gene CEP290 (centrosomal protein 290) variant at chromosome position 88093955 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTTAAGTATAATTGTACAAGTCAATATATGTTTAATACCTTGCACCGTGACTAGT... | TGTTTTTCTTTGTTTGTTTGTTTGTTTGACAGAGTCTCGCTCTGTCACCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGATCAAGCGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGGCTACAGGCACATGTCACCACGCCCAGCCAGCACGCAGTATTTACTCCTTATATATATTTTGTGTTCTAAACTAGCTGGGCATATTTCTTCATGTAAAATGAAAACAAAAATATAACCTCAAGGTTAAGTATAATTGTACAAGTCAATATATGTTTAATACCTTGCACCGTGACTAGT... | pathogenic | 200,481 |
Evaluate this variant at chromosome 12, position 88096978, gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis'] | AATTGGTCTCTATCTCAGTTTTAAAAAGTACTTCATTATGTTCTGTATTTATCTTTAAAATGTATTATTTTAGAATAGCTGTGGCAAGCAGTAATCAAGTAACTAACAATAATGGATCACTAACAGGTGCTAAAAGCATTAGTAAATCAGTTCATTATGGAATAAAGACTCATTCAAGTAACCTTAGGCACCATGTAGAAAAATACTGCAATAAATACCAATATATAAAGGAGTCCTTCTCCATTCTGTATTGTGCTAAACTCTGATTAGAAGAGAAAAGCACATCACAAAGGCTGAAGCAGACTAGCCATCTTGTATGT... | AATTGGTCTCTATCTCAGTTTTAAAAAGTACTTCATTATGTTCTGTATTTATCTTTAAAATGTATTATTTTAGAATAGCTGTGGCAAGCAGTAATCAAGTAACTAACAATAATGGATCACTAACAGGTGCTAAAAGCATTAGTAAATCAGTTCATTATGGAATAAAGACTCATTCAAGTAACCTTAGGCACCATGTAGAAAAATACTGCAATAAATACCAATATATAAAGGAGTCCTTCTCCATTCTGTATTGTGCTAAACTCTGATTAGAAGAGAAAAGCACATCACAAAGGCTGAAGCAGACTAGCCATCTTGTATGT... | pathogenic | 200,484 |
Is the variant located on chromosome 12 at position 88102895, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AATGGTTCCCTATATATAGAAAAGAGCACGTACAAAAGAACATACATAAGAAAGAACACTGTGGTCAGAAAACTCAGCTAGTTCATCTCTTGCTCTAGATGACATGAGGTAAGTAGGGGACTTGACTTTTACCCTTCAGGTAACCGGTAGCTTTTGACAGTTTTTAAGGCGGGGAGTCACATGGGAGTCACAGGGTAGGATTCATGTTTAGAATGATCATTCTTGTGGCAGTAAGGAGGATGTAAGACTGGAGATAGAGACAGGAATAATGGCTGCCACAATAAAGATAATAAAAAATAAAACTAAGACACTGCCAATAG... | AATGGTTCCCTATATATAGAAAAGAGCACGTACAAAAGAACATACATAAGAAAGAACACTGTGGTCAGAAAACTCAGCTAGTTCATCTCTTGCTCTAGATGACATGAGGTAAGTAGGGGACTTGACTTTTACCCTTCAGGTAACCGGTAGCTTTTGACAGTTTTTAAGGCGGGGAGTCACATGGGAGTCACAGGGTAGGATTCATGTTTAGAATGATCATTCTTGTGGCAGTAAGGAGGATGTAAGACTGGAGATAGAGACAGGAATAATGGCTGCCACAATAAAGATAATAAAAAATAAAACTAAGACACTGCCAATAG... | pathogenic | 200,489 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 88106697, gene CEP290 (centrosomal protein 290). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGAAGACAATTATTTCAAGTAAGTGTAGAATACTTTGCCTATACATTCTCAGCAAGATATATTCTGAAGAAAATAAGACCTGAAATAAAACTTTAAACTATGTTTGGCAGCAGTGCTGTTGTTGTTACTATTAATATCAATTCAAGTATTATTTTTCAAATTATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAAT... | TGAAGACAATTATTTCAAGTAAGTGTAGAATACTTTGCCTATACATTCTCAGCAAGATATATTCTGAAGAAAATAAGACCTGAAATAAAACTTTAAACTATGTTTGGCAGCAGTGCTGTTGTTGTTACTATTAATATCAATTCAAGTATTATTTTTCAAATTATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAAT... | pathogenic | 200,495 |
Determine if the mutation at chromosome 12, position 88106809 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa'] | GTGCTGTTGTTGTTACTATTAATATCAATTCAAGTATTATTTTTCAAATTATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAA... | GTGCTGTTGTTGTTACTATTAATATCAATTCAAGTATTATTTTTCAAATTATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAA... | pathogenic | 200,500 |
Regarding the variant at chromosome 12 and position 88106859, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTC... | ATTGTATGTATATTGTAGGATAAAACAAATATTTTAATGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTC... | pathogenic | 200,502 |
A genetic variant on chromosome 12, position 88106896, affects the gene CEP290 (centrosomal protein 290). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGAC... | TGTTAATAATAAAGGTTTTCTATGTAAGAAAAAAATACAAGTGCAAAATCAAAGAAGCTTAGTAAAAATCCGATACTATTTACTTACCCCATAATGTTATAATTAAACTGGAAATAACAATATGAACTCATGGTTTAAATATATACATATTTTTCTAACTTGTCTACTGAGAGACTAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGAC... | pathogenic | 200,505 |
Determine whether the variant at chromosome 12, position 88107071, in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGACATCTTATGCTAGAAAACAAGTCAAGCTTTGAGGCTTCGTTCAAAAGACTAATGAATTTTTGTCAAGACAATATAAGAGTCAACTTTAAAGGACTCTCTTTGGCTAAAGTTGAGACAAAAGAATATGACTCCAACTAAAACACATGGAATATTTAAAAATCTGTGAGTCTAATCTG... | TAGTGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGACATCTTATGCTAGAAAACAAGTCAAGCTTTGAGGCTTCGTTCAAAAGACTAATGAATTTTTGTCAAGACAATATAAGAGTCAACTTTAAAGGACTCTCTTTGGCTAAAGTTGAGACAAAAGAATATGACTCCAACTAAAACACATGGAATATTTAAAAATCTGTGAGTCTAATCTG... | pathogenic | 200,513 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88107074, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGACATCTTATGCTAGAAAACAAGTCAAGCTTTGAGGCTTCGTTCAAAAGACTAATGAATTTTTGTCAAGACAATATAAGAGTCAACTTTAAAGGACTCTCTTTGGCTAAAGTTGAGACAAAAGAATATGACTCCAACTAAAACACATGGAATATTTAAAAATCTGTGAGTCTAATCTGATA... | TGGCAATGATACTCTGAGAGCAATGATGCCCAGTGGCCAGTTTTTGGTATCTAAATGCCTTCCCCACTAAAAGGAACCTGGGCTCTTTAAAGAAATGGTTTATTCCAAGTATGGGCATGAAGTATGTAGGTAAGTCTAAGACATCTTATGCTAGAAAACAAGTCAAGCTTTGAGGCTTCGTTCAAAAGACTAATGAATTTTTGTCAAGACAATATAAGAGTCAACTTTAAAGGACTCTCTTTGGCTAAAGTTGAGACAAAAGAATATGACTCCAACTAAAACACATGGAATATTTAAAAATCTGTGAGTCTAATCTGATA... | pathogenic | 200,514 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88109115, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTTTAGATTCTGTTTTCCAGGTCTCCTTTTCACTAAAAACAAAACAAAACAAAAAGACAATACTGTAAACCTAATAAAATGTTTATAAGAAAAGATAACTTCAGATTATGCAAATTTAAAGTTTTCTCAACACAAGAGGTATCATAGCTATTCAGTATCTGAAAACACAAGAAGTTAAACTTTCATTTAAAAAGGGTTTAGCCTAGAATTAAAAATTTTTTAAATAAATGCAAGGCAACAAAGTTATCAAATTATTTTCATTCTTCCCTGATTCACCACTAAATGGGTTATAATATAATTGAAGCTGAATCTTATAAACA... | TTTTAGATTCTGTTTTCCAGGTCTCCTTTTCACTAAAAACAAAACAAAACAAAAAGACAATACTGTAAACCTAATAAAATGTTTATAAGAAAAGATAACTTCAGATTATGCAAATTTAAAGTTTTCTCAACACAAGAGGTATCATAGCTATTCAGTATCTGAAAACACAAGAAGTTAAACTTTCATTTAAAAAGGGTTTAGCCTAGAATTAAAAATTTTTTAAATAAATGCAAGGCAACAAAGTTATCAAATTATTTTCATTCTTCCCTGATTCACCACTAAATGGGTTATAATATAATTGAAGCTGAATCTTATAAACA... | pathogenic | 200,521 |
Variant on chromosome 12, at position 88109158, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinitis_pigmentosa', 'Senior-Loken_syndrome_6'] | ACAAAACAAAAAGACAATACTGTAAACCTAATAAAATGTTTATAAGAAAAGATAACTTCAGATTATGCAAATTTAAAGTTTTCTCAACACAAGAGGTATCATAGCTATTCAGTATCTGAAAACACAAGAAGTTAAACTTTCATTTAAAAAGGGTTTAGCCTAGAATTAAAAATTTTTTAAATAAATGCAAGGCAACAAAGTTATCAAATTATTTTCATTCTTCCCTGATTCACCACTAAATGGGTTATAATATAATTGAAGCTGAATCTTATAAACATTTTATTGAACACAGAAAAAAAGTAGGAAAATAATACCCTATA... | ACAAAACAAAAAGACAATACTGTAAACCTAATAAAATGTTTATAAGAAAAGATAACTTCAGATTATGCAAATTTAAAGTTTTCTCAACACAAGAGGTATCATAGCTATTCAGTATCTGAAAACACAAGAAGTTAAACTTTCATTTAAAAAGGGTTTAGCCTAGAATTAAAAATTTTTTAAATAAATGCAAGGCAACAAAGTTATCAAATTATTTTCATTCTTCCCTGATTCACCACTAAATGGGTTATAATATAATTGAAGCTGAATCTTATAAACATTTTATTGAACACAGAAAAAAAGTAGGAAAATAATACCCTATA... | pathogenic | 200,523 |
Gene CEP290 (centrosomal protein 290) variant at chromosome position 88111227 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis'] | TTCCTGAAAAGTGGTTTAGAAATAAGAATGCAAAAAAAAACACAATAGAATAAATGCTGAATTTGAAAGTATAAATTCATATTCTGACAACATTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACC... | TTCCTGAAAAGTGGTTTAGAAATAAGAATGCAAAAAAAAACACAATAGAATAAATGCTGAATTTGAAAGTATAAATTCATATTCTGACAACATTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACC... | pathogenic | 200,526 |
Does the chromosome 12 mutation at position 88111284 within gene CEP290 (centrosomal protein 290) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TGAATTTGAAAGTATAAATTCATATTCTGACAACATTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACCCTCACTCAAATTATCCTTTCCAATTATTTCATTTTAAAGATGAAATTGAAATTTAAA... | TGAATTTGAAAGTATAAATTCATATTCTGACAACATTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACCCTCACTCAAATTATCCTTTCCAATTATTTCATTTTAAAGATGAAATTGAAATTTAAA... | pathogenic | 200,527 |
A genetic variant on chromosome 12, position 88111319, affects the gene CEP290 (centrosomal protein 290). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Leber_congenital_amaurosis_10'] | TTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACCCTCACTCAAATTATCCTTTCCAATTATTTCATTTTAAAGATGAAATTGAAATTTAAATAACTTACTCAATATCCAAAAACTCATTAACACTA... | TTATAGGAAAGTTAAAAGTCACCAAATCTGTAAGCAACACAGATCATTTTTCCATGATATTTTGAACACTTTAGTTTAAGGCATAAAAAAAGAGTACTATACAACAGGTAAAGTTATTTTTAGCACACAAATTACCAGATTACAAAGTTTTATTAGATAGAATAGTTATAAACTCGCCTCTAGTCACTCGGCCACATACCCTCTCTTATGAACACATAATTTCATACCCTCACTCAAATTATCCTTTCCAATTATTTCATTTTAAAGATGAAATTGAAATTTAAATAACTTACTCAATATCCAAAAACTCATTAACACTA... | pathogenic | 200,531 |
Does the chromosome 12 mutation at position 88111697 within gene CEP290 (centrosomal protein 290) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TATACATGGATCCAACATTTGAGTTTGGGTCTGTCTGACTCCAAAGGTCTTGCCACGTTTATAGCTCTATACAGCCTTAGGATTGAGAGTCTAAGTACCTGTTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCA... | TATACATGGATCCAACATTTGAGTTTGGGTCTGTCTGACTCCAAAGGTCTTGCCACGTTTATAGCTCTATACAGCCTTAGGATTGAGAGTCTAAGTACCTGTTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCA... | pathogenic | 200,537 |
Considering the variant on chromosome 12, location 88111787, involving gene CEP290 (centrosomal protein 290), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Leber_congenital_amaurosis', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Retinal_dystrophy'] | CTAAGTACCTGTTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCACATACAAAGCAATATTCTAATAAGTAGTTAAGGCTGTCCTTAGACAACATAAAATAATAATAAAAATCCCAATATTGAGAAAAAGATGAA... | CTAAGTACCTGTTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCACATACAAAGCAATATTCTAATAAGTAGTTAAGGCTGTCCTTAGACAACATAAAATAATAATAAAAATCCCAATATTGAGAAAAAGATGAA... | pathogenic | 200,542 |
Regarding the variant found on chromosome 12 at position 88111798 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCACATACAAAGCAATATTCTAATAAGTAGTTAAGGCTGTCCTTAGACAACATAAAATAATAATAAAAATCCCAATATTGAGAAAAAGATGAATTACTGTAATT... | TTTTGCCACTTTGGACAGCTTTTCAGACTCCCAGTTGGTACTCTCTAATCTACTACAAACTTCTGATATATTTCTTATACAAAGATTAAAAATCATGAATTTTATCTCAAAAAATACGACAATGCCATACTACCAATATTTGCTGATAGTGTTCCTATACCTCAGGTAAATAAGAGAAATAATAATGTTAAAATTATACATTTAAAAATAATAATATCACATACAAAGCAATATTCTAATAAGTAGTTAAGGCTGTCCTTAGACAACATAAAATAATAATAAAAATCCCAATATTGAGAAAAAGATGAATTACTGTAATT... | pathogenic | 200,543 |
Gene CEP290 (centrosomal protein 290) variant at chromosome 12, position 88114389—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATATTGAACAATTGATCAATACAACATTCAATTAAGTGAATTTTTCAGTGCTTCCTCTCCACATAGTTGAAGCATAAATAAAAATAAAGGCAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCA... | ATATTGAACAATTGATCAATACAACATTCAATTAAGTGAATTTTTCAGTGCTTCCTCTCCACATAGTTGAAGCATAAATAAAAATAAAGGCAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCA... | benign | 200,546 |
Gene mutation in CEP290 (centrosomal protein 290) at chromosome 12, position 88114417—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | CAATTAAGTGAATTTTTCAGTGCTTCCTCTCCACATAGTTGAAGCATAAATAAAAATAAAGGCAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCAAATAAGGTAAAATGAATAGAACCAAATG... | CAATTAAGTGAATTTTTCAGTGCTTCCTCTCCACATAGTTGAAGCATAAATAAAAATAAAGGCAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCAAATAAGGTAAAATGAATAGAACCAAATG... | pathogenic | 200,548 |
Regarding the variant found on chromosome 12 at position 88114479 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCAAATAAGGTAAAATGAATAGAACCAAATGCAATCTCCTACTCAGGAAGGTGATCTGGGGTTTAACTCTAGGTAGTAGATTTGTAAAAGCCT... | CAAGGTATCATAACATGATATTATCTAAGAATAATGAGTAAGCAAAAATAATATGTCAAATATTAAAATATTATCAGAGTGGCATCACTGGCCCGAAATCTCCAACAGTGGCATATCTAAGTATATACACACAATGCACACATCTAATAAATATATTTGGACTTTAGATGAACTGTATGGAAAAAACTGTTAAAGGCAAAGTAAGTCTTAAAAAGTGAAGGTAGAAGCCAAATAAGGTAAAATGAATAGAACCAAATGCAATCTCCTACTCAGGAAGGTGATCTGGGGTTTAACTCTAGGTAGTAGATTTGTAAAAGCCT... | pathogenic | 200,551 |
Is the variant located on chromosome 12 at position 88115141, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | CTGAAAAAACAATGACAATCCCGGATAAAAGTAAATGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATG... | CTGAAAAAACAATGACAATCCCGGATAAAAGTAAATGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATG... | pathogenic | 200,561 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 88115143, gene CEP290 (centrosomal protein 290). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GAAAAAACAATGACAATCCCGGATAAAAGTAAATGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGG... | GAAAAAACAATGACAATCCCGGATAAAAGTAAATGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGG... | pathogenic | 200,562 |
Variant on chromosome 12, at position 88115176, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGGAATCAAATTATTTTCTTGCCTCAGGAAGTTTTT... | TGAAGTCTATGCAAACAGTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGGAATCAAATTATTTTCTTGCCTCAGGAAGTTTTT... | pathogenic | 200,563 |
Determine whether the variant at chromosome 12, position 88115193, in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGGAATCAAATTATTTTCTTGCCTCAGGAAGTTTTTAACATACCAGTATCACT... | GTGGCTTCAGGAAGGTCCAGAGATTGTCAACATAAATAGAAGTTAGGATTTCTTGGGCTATTCACTGTGTTTTCATTTGGTCACTAAGTAGAGCTGCCCTTGGAAAATTAAGTTTGATCTGGGACACAGTATCAGTAGTGGGCATCATCACGGACAAAAGATGTTCACATAAAAAAAGCATAAAGAATCATTTTAGACATTCAAAGTGGCAGAGGCAAAACAAAATCACCAATCAGAGAAGGAAAGTCAGTATGAGAAAGATATAATGGGAATCAAATTATTTTCTTGCCTCAGGAAGTTTTTAACATACCAGTATCACT... | benign | 200,565 |
Clinically, how would you classify the variant at chromosome 12, position 88117016, gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATATACAGTACAGAGGTAATTAGGAGTAAAGCAGATTAGAAAACAGAGAATGTGTTAACGCCCTTTTAGGCCCATGATTTTAAGTATAGGAAAAATAAGAACAGAAAAGTAAAAGATAATTGTAACTTACATTTATTCTGAAATTTGGCTATCACTGTCCTACTCCTTTCTAAATCTCTTTCTTTTTCAATTAGTTCTCTTGAAAGAAATTCATTCTGAAAAAAGCAGAGAGAATAAAATTGATTTTTTTCAACAAAATATCACAAGTCTATAATTTTCAAGTTAAGAAAAGTTTGATCAATTAAGTATAACAAAACAAA... | ATATACAGTACAGAGGTAATTAGGAGTAAAGCAGATTAGAAAACAGAGAATGTGTTAACGCCCTTTTAGGCCCATGATTTTAAGTATAGGAAAAATAAGAACAGAAAAGTAAAAGATAATTGTAACTTACATTTATTCTGAAATTTGGCTATCACTGTCCTACTCCTTTCTAAATCTCTTTCTTTTTCAATTAGTTCTCTTGAAAGAAATTCATTCTGAAAAAAGCAGAGAGAATAAAATTGATTTTTTTCAACAAAATATCACAAGTCTATAATTTTCAAGTTAAGAAAAGTTTGATCAATTAAGTATAACAAAACAAA... | benign | 200,567 |
Does the variant impacting CEP290 (centrosomal protein 290) on chromosome 12, position 88117106, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AAAAATAAGAACAGAAAAGTAAAAGATAATTGTAACTTACATTTATTCTGAAATTTGGCTATCACTGTCCTACTCCTTTCTAAATCTCTTTCTTTTTCAATTAGTTCTCTTGAAAGAAATTCATTCTGAAAAAAGCAGAGAGAATAAAATTGATTTTTTTCAACAAAATATCACAAGTCTATAATTTTCAAGTTAAGAAAAGTTTGATCAATTAAGTATAACAAAACAAAACAAAAAAAACGAGCTATGAAGACATAGCAGCAATCATAAAAATAAACTAAAATCTAAACAGTAAAGCAGATGGTGATCTTAATCCCACT... | AAAAATAAGAACAGAAAAGTAAAAGATAATTGTAACTTACATTTATTCTGAAATTTGGCTATCACTGTCCTACTCCTTTCTAAATCTCTTTCTTTTTCAATTAGTTCTCTTGAAAGAAATTCATTCTGAAAAAAGCAGAGAGAATAAAATTGATTTTTTTCAACAAAATATCACAAGTCTATAATTTTCAAGTTAAGAAAAGTTTGATCAATTAAGTATAACAAAACAAAACAAAAAAAACGAGCTATGAAGACATAGCAGCAATCATAAAAATAAACTAAAATCTAAACAGTAAAGCAGATGGTGATCTTAATCCCACT... | pathogenic | 200,572 |
Is the genetic variant on chromosome 12, position 88118525, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TGGGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAA... | TGGGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAA... | pathogenic | 200,579 |
Clinical significance of chromosome 12, position 88118527, gene CEP290 (centrosomal protein 290): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Abnormality_of_prenatal_development_or_birth', 'Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronop... | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | pathogenic | 200,580 |
Regarding the variant found on chromosome 12 at position 88118527 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syn... | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | pathogenic | 200,581 |
Clinical classification of chromosome 12, position 88118527, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | GGGTATTGAATGATGATCTCCTATGCAGCAGCTCTGCTTTATCTGAACTCCTAATCTGTATTCAGAGTAAATAATGTCTCATTAATCAATCTTTGAATCAACAGGTTAAATAAGCAAATATTTCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAAC... | pathogenic | 200,582 |
Considering the genetic mutation at chromosome 12, position 88118649, impacting CEP290 (centrosomal protein 290): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG... | TCCCTCTACTTATTTAACAACAATAATAAGATTAGATGTTCAAGAATGAGATAAAGGGGGAAGAAATGAAAACACAATAAAAATATTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG... | pathogenic | 200,587 |
Mutation at chromosome 12, position 88120120, within CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ACAAGAAAAGCTTTTCAATGCATAGTCCTTAAGGAAAGGGAAAATGTTGAGTAACATATATTAACATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAA... | ACAAGAAAAGCTTTTCAATGCATAGTCCTTAAGGAAAGGGAAAATGTTGAGTAACATATATTAACATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAA... | pathogenic | 200,591 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88120120: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Blindness', 'Familial_aplasia_of_the_vermis', 'Global_developmental_delay', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ACAAGAAAAGCTTTTCAATGCATAGTCCTTAAGGAAAGGGAAAATGTTGAGTAACATATATTAACATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAA... | ACAAGAAAAGCTTTTCAATGCATAGTCCTTAAGGAAAGGGAAAATGTTGAGTAACATATATTAACATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAA... | pathogenic | 200,592 |
The mutation impacting CEP290 (centrosomal protein 290) on chromosome 12 at position 88120184: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAACAGCAAAAACAGCTAAGACACAAATAATTTCATATCCAGACAACTCACTTATCAATAATTCTTT... | CATAAAAACTACTAAGTTTTATTATTATTAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAACAGCAAAAACAGCTAAGACACAAATAATTTCATATCCAGACAACTCACTTATCAATAATTCTTT... | pathogenic | 200,593 |
Assess the variant on chromosome 12, position 88120212, impacting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAACAGCAAAAACAGCTAAGACACAAATAATTTCATATCCAGACAACTCACTTATCAATAATTCTTTTTAAAGGTTTAGAATAACTGAGTATACC... | TAATAACAACATATTGGTGCTGTCTAGAAATTAAAATACTATACTATAAAACTTTTCAAAAATTCCATAATTCTAAGGTTTTTTTCTTTTTTGTTTGCTTGGTTTTTGTTATTTTGTTTTGTTTTGTTTTTGTCTATTTCAGATTCAGGACTGAACCCACTGACACTCACTTATCTCCTTCAGGTTATTATTGTCATTTATTAAATTTGTAGCAGATCCACAATAGAACAGCAAAAACAGCTAAGACACAAATAATTTCATATCCAGACAACTCACTTATCAATAATTCTTTTTAAAGGTTTAGAATAACTGAGTATACC... | pathogenic | 200,595 |
A genetic variant on chromosome 12, position 88121008, affects the gene CEP290 (centrosomal protein 290). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Retinal_dystrophy'] | AATTATAAACCAAGATTTGGAGCTTTTTAAGCACAGAAAATATGATGTCTATGACAGCTACCTAGACGGGCCAGAAGTCATCTTTAGGAACTTCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAA... | AATTATAAACCAAGATTTGGAGCTTTTTAAGCACAGAAAATATGATGTCTATGACAGCTACCTAGACGGGCCAGAAGTCATCTTTAGGAACTTCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAA... | pathogenic | 200,601 |
Determine if the mutation at chromosome 12, position 88121097 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ACTTCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAA... | ACTTCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAA... | pathogenic | 200,602 |
Clinical classification of chromosome 12, position 88121100, gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATAT... | TCCAGATTCTTGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATAT... | pathogenic | 200,603 |
Regarding the variant found on chromosome 12 at position 88121130 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATATTAACTAATAGGCTATTTATTAAAATAAATA... | AAGTTGATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATATTAACTAATAGGCTATTTATTAAAATAAATA... | pathogenic | 200,605 |
Located at chromosome 12 position 88121135, the variant affecting gene CEP290 (centrosomal protein 290)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_ciliopathy', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Lo... | GATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATATTAACTAATAGGCTATTTATTAAAATAAATATATAA... | GATCAGAAGGCTGTGATCTGATAGTCCAAGTTGATCAGAAGTCTAATTTGGGGTCCTAGCACAACTACGGATCCAAGTTAGATACTTTTCACACATATATATCTGTATAAAATACTTATTTGTCTATTTGTCTTTTCTTTAGATAATAGTTTTTACAAATGATCATTTTTAACTAAGAAAGCATTAAATGAAATTTAGCAATAATGAAATTGATATTTAGATATTTATTTTCATTTTAAAGCAGCAACTTAGTCTGCACTATCATAACACTCAAATTAGTAATATTAACTAATAGGCTATTTATTAAAATAAATATATAA... | pathogenic | 200,606 |
Is the genetic variant on chromosome 12, position 88126425, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTCACTCCTTTACTTCCTTTAAGTATTGGTTCAATTATCTCCTGAGCAAGGCTTTTGCTTCATTTTTGAAATTACAACCGTACCTGCAAACACATCACTACACTTACACACACATATGTGCACGGAATCACTATTTCTTCTTCATGTCATATATACAAATATATATATATACACACACACATATGACATGTATATATATGTGTATATATGTATATATATATGACATGAAGAAGAAATAGTGATTCCATGCGCGTGTGTATAAATGTAGTGTATACATATATACATAGTCACCAATTATAATAAACATGTCCATGAATTTC... | TTCACTCCTTTACTTCCTTTAAGTATTGGTTCAATTATCTCCTGAGCAAGGCTTTTGCTTCATTTTTGAAATTACAACCGTACCTGCAAACACATCACTACACTTACACACACATATGTGCACGGAATCACTATTTCTTCTTCATGTCATATATACAAATATATATATATACACACACACATATGACATGTATATATATGTGTATATATGTATATATATATGACATGAAGAAGAAATAGTGATTCCATGCGCGTGTGTATAAATGTAGTGTATACATATATACATAGTCACCAATTATAATAAACATGTCCATGAATTTC... | pathogenic | 200,620 |
For chromosome 12, position 88129046, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCTAAAAGCAGAAAAATAATAACGTTTTTAGATATTAAAACATACACAAATTAAAACAAGTATACACTGCTAGAAAATAGATCAATCAATTCAATAAAAGATGAAATAATCAATAAAAGATGTTTGGACAACAGAGTAGCTCTGTTGAATCCACATGATACTCCTTACATCAAAATGAATTATATGTTTCGAAGATTTAAATGTAAAAAAAGGCCAGGCAGAGTCACACCTGTAATTCCAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGGCCAGGGGTTCAAGACCAGCCTGGCCAACACAGTGTGACCCCA... | GTCTAAAAGCAGAAAAATAATAACGTTTTTAGATATTAAAACATACACAAATTAAAACAAGTATACACTGCTAGAAAATAGATCAATCAATTCAATAAAAGATGAAATAATCAATAAAAGATGTTTGGACAACAGAGTAGCTCTGTTGAATCCACATGATACTCCTTACATCAAAATGAATTATATGTTTCGAAGATTTAAATGTAAAAAAAGGCCAGGCAGAGTCACACCTGTAATTCCAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGGCCAGGGGTTCAAGACCAGCCTGGCCAACACAGTGTGACCCCA... | benign | 200,624 |
Clinically, how would you classify the variant at chromosome 12, position 88129717, gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_6'] | CAAACTGTTAGAATGTATTTGCAACATACATGACAATTACAACACTTGCAGCAATTTATTCCACAGATATACTTGTACATTTGCAAAATAACATATATAAGGATATTCATTAAAACAGTTTACAACCCCAAAATTGGAAACTTCATAAACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCT... | CAAACTGTTAGAATGTATTTGCAACATACATGACAATTACAACACTTGCAGCAATTTATTCCACAGATATACTTGTACATTTGCAAAATAACATATATAAGGATATTCATTAAAACAGTTTACAACCCCAAAATTGGAAACTTCATAAACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCT... | pathogenic | 200,629 |
Variant on chromosome 12, at position 88129810, affecting CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TATATAAGGATATTCATTAAAACAGTTTACAACCCCAAAATTGGAAACTTCATAAACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCG... | TATATAAGGATATTCATTAAAACAGTTTACAACCCCAAAATTGGAAACTTCATAAACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCG... | pathogenic | 200,630 |
Is the genetic variant on chromosome 12, position 88129865, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | ACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATA... | ACTTCACAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATA... | pathogenic | 200,633 |
Does the variant on chromosome 12 at location 88129871 affecting gene CEP290 (centrosomal protein 290) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4'] | CAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATAAGCAGA... | CAAATTATCAAATTAACACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATAAGCAGA... | pathogenic | 200,634 |
The genetic variant at chromosome 12, position 88129887, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease name(s) if pathogenic? | benign | CACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATAAGCAGAGTTTAGTTATAGCAGA... | CACCTGTATAAAAAGAAAAATTACATAGCCTTTAAAAAGAACAGCAATACTATACGTACTGATATAAAATAATTATGAAATGGTATTAAGTCAAAACAAAGTACAGAATACATATAACATGTCACCATTTACCCTGCCAACATTCAATCTGGTAAAGACAACTGTTTTTTCCAGGGGTTGGTAGACTATGGCCCAAAGGTCAAATCTGGCCTCCCATCTGCTTTTGTAAATAAAATTTTACCGGAAAACCACCTTGCTCACTCATTTACGTATTGTCAATGGCTGCTTTCATGCTATAAGCAGAGTTTAGTTATAGCAGA... | benign | 200,635 |
Determine if the mutation at chromosome 12, position 88130301 in gene CEP290 (centrosomal protein 290) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TTTTGTTTAAAATATAGGTTATCTGAGCTCCCTAGATGCTAACCAGTTCCAAACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTA... | TTTTGTTTAAAATATAGGTTATCTGAGCTCCCTAGATGCTAACCAGTTCCAAACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTA... | pathogenic | 200,637 |
A mutation at chromosome position 88130310 on chromosome 12 in gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | AAATATAGGTTATCTGAGCTCCCTAGATGCTAACCAGTTCCAAACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAA... | AAATATAGGTTATCTGAGCTCCCTAGATGCTAACCAGTTCCAAACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAA... | pathogenic | 200,639 |
Chromosome 12, position 88130352, gene CEP290 (centrosomal protein 290): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGG... | AACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGG... | pathogenic | 200,642 |
Is the genetic variant on chromosome 12, position 88130352, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGG... | AACTGCCCACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGG... | pathogenic | 200,643 |
Is chromosome 12, position 88130359, gene CEP290 (centrosomal protein 290) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGGTAACTAT... | CACAAGATTTATGTGAACCATACTAGAAAGCAATGACTCTAGAAGTGATAGTTTTTAAAATTAGAATTATTCATTCAGAATAATCTCTGATGTTTTTCAAGTATACAACCATCATAATCCCAGCTTCTAATATGGTAAGGCCTGACAATTTGGTTAAGGTTGGAGAGTGGTGGTGAGGAAGAAAAGTGTATTTTGAAAAGGCTTCCCAAGTTATTCTGATCCCTTTGCTTATTCCCATTCCCACTGATGAACCTGACATTTAGTTAGAAAAACTAAAATTAAACCTGCAACTATTTAACTAATGTATATAAGGTAACTAT... | pathogenic | 200,644 |
Does the chromosome 12 mutation at position 88131237 within gene CEP290 (centrosomal protein 290) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATTACATATGTGTATTTATCATTGAAGTCATCCTGGAATTATAGGTGACATTTAATAGTTTCTGCATCTTATAATTGCATAATTATCTTTCATTACTAGAAAATTTTATTTTTAAACATTATTCTACCTTTTAAACAAATTTAATCCACATAAATACTGAACAATGTATTGGTTTCTAATACATTTATAATGTATTTATTTTAAGATAAAATGAAATGTTATGATCCACAGGATTTTCAGTAGTCTTTTATAGAAAACCCCATAATGACTGCTATCTACACATTCATTCAAGTATCATTTATATATCCTAAATTGCAAAA... | ATTACATATGTGTATTTATCATTGAAGTCATCCTGGAATTATAGGTGACATTTAATAGTTTCTGCATCTTATAATTGCATAATTATCTTTCATTACTAGAAAATTTTATTTTTAAACATTATTCTACCTTTTAAACAAATTTAATCCACATAAATACTGAACAATGTATTGGTTTCTAATACATTTATAATGTATTTATTTTAAGATAAAATGAAATGTTATGATCCACAGGATTTTCAGTAGTCTTTTATAGAAAACCCCATAATGACTGCTATCTACACATTCATTCAAGTATCATTTATATATCCTAAATTGCAAAA... | benign | 200,651 |
For chromosome 12, position 88131237, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATTACATATGTGTATTTATCATTGAAGTCATCCTGGAATTATAGGTGACATTTAATAGTTTCTGCATCTTATAATTGCATAATTATCTTTCATTACTAGAAAATTTTATTTTTAAACATTATTCTACCTTTTAAACAAATTTAATCCACATAAATACTGAACAATGTATTGGTTTCTAATACATTTATAATGTATTTATTTTAAGATAAAATGAAATGTTATGATCCACAGGATTTTCAGTAGTCTTTTATAGAAAACCCCATAATGACTGCTATCTACACATTCATTCAAGTATCATTTATATATCCTAAATTGCAAAA... | ATTACATATGTGTATTTATCATTGAAGTCATCCTGGAATTATAGGTGACATTTAATAGTTTCTGCATCTTATAATTGCATAATTATCTTTCATTACTAGAAAATTTTATTTTTAAACATTATTCTACCTTTTAAACAAATTTAATCCACATAAATACTGAACAATGTATTGGTTTCTAATACATTTATAATGTATTTATTTTAAGATAAAATGAAATGTTATGATCCACAGGATTTTCAGTAGTCTTTTATAGAAAACCCCATAATGACTGCTATCTACACATTCATTCAAGTATCATTTATATATCCTAAATTGCAAAA... | benign | 200,653 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 88136646, gene CEP290 (centrosomal protein 290). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CTGTTTTCAAATCCTACCTTTACCATTTATAAGCTGTGCAACCATGGGCAATTACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATA... | CTGTTTTCAAATCCTACCTTTACCATTTATAAGCTGTGCAACCATGGGCAATTACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATA... | pathogenic | 200,659 |
Is the genetic mutation found on chromosome 12 at position 88136696, within the gene CEP290 (centrosomal protein 290), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6', 'Spastic_ataxia'] | ATTACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGA... | ATTACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGA... | pathogenic | 200,660 |
A mutation at chromosome position 88136698 on chromosome 12 in gene CEP290 (centrosomal protein 290): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | TACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGATC... | TACTCTTTCTGTGTCTCCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGATC... | pathogenic | 200,661 |
Benign or pathogenic: chromosome 12, position 88136714, gene CEP290 (centrosomal protein 290) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | CCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGATCACATCCTGCACCTCAA... | CCATTTCTTCATCTGTATCATGGCAGAAATGACAACTATCTCATATGACAAGTATCAAATAAGCAATAATGAATTAATGCATATGAAGTGCCTGGCACATAGTAAGGACTCTATGAAAGCTATTTTCACTTATATTTCAGTCAAAATGAATAACTGTAGTTTCCTAAATACTCCATAACATCTCTTACCTCTAGGTCTTAGCAAATGCTATATCTTCTACCCAGAATGTTCTTTTATTAACCACCATATATATCCTCATTCCTCTTACCAGTCTAACTATACTTCAGGTCTCAGTTTACAGATCACATCCTGCACCTCAA... | pathogenic | 200,662 |
Is the genetic variant on chromosome 12, position 88139149, gene CEP290 (centrosomal protein 290), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | GAACCTGAGTACAAACCATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGA... | GAACCTGAGTACAAACCATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGA... | pathogenic | 200,670 |
The genetic variant at chromosome 12, position 88139161, affecting gene CEP290 (centrosomal protein 290): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AAACCATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGAT... | AAACCATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGAT... | pathogenic | 200,672 |
Regarding the variant found on chromosome 12 at position 88139165 in gene CEP290 (centrosomal protein 290): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Nephronophthisis'] | CATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAA... | CATCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAA... | pathogenic | 200,673 |
Is chromosome 12, position 88139167, gene CEP290 (centrosomal protein 290) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | TCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATC... | TCAGAATCTCCACCCCAGTCAGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATC... | pathogenic | 200,674 |
For chromosome 12, position 88139187, gene CEP290 (centrosomal protein 290): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_5', 'Meckel-Gruber_syndrome', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATCCATTTTACCTCACAGTCTTG... | AGTGAAGCTGAGTGCCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATCCATTTTACCTCACAGTCTTG... | pathogenic | 200,675 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 88139201, gene CEP290 (centrosomal protein 290): what disease(s) if pathogenic? | benign | CCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATCCATTTTACCTCACAGTCTTGTTAATTCAGGTCAT... | CCTTAACCTGCCCTTTCTCTCATACCATGCACTGTTTAGACCAGTGCTGTCCCATAGGACTTTCTAGCATAATGGACATGCTGTCAGTGCTGTCCAGTTCAATAGCCACTCGCTACATGTAGCTATGTTCGGGCATTTGAAGTGTGGCTAGTGCAACTGAAGAACTAAATTTTTCATTTTAATTTTAACCAATGTAAATATAAATAGCTACAAGTGGTTAGTGCTAGTGCTACCATATTAAACAGCTCAGGTTTTGGTTATCTTAAGATTTGTAGCCGATTAAATCCATTTTACCTCACAGTCTTGTTAATTCAGGTCAT... | benign | 200,677 |
Chromosome 12, position 88140968, gene CEP290 (centrosomal protein 290): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'CEP290-related_disorder', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_5', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_10', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_4', 'Nephronophthisis', 'Senior-Loken_syndrome_6'] | AGCTCCATCCAGCAGTTAACTTCTTATTTTGTTCACAACCATATGCTCAGTCCTTAGTACTATATAAGGCACATAATAGGCATGTAGAACATATACAGAATAAACAAATAACCATGATTACAATCATCCTTATAATTTTTCCAGCCAACAATAATTTTAAAATTTGAAAACAATTCAAAATAAAATTAATGACAATTACATCCTAGGGAATACAAAAAGACATACCTCCAGTTCATTTTCCAGTTTCATTACTTTAGTTTTTAATTGATTTTCTATTTTTTTAAAAAAAAAGAAAAACGTTTTAATTGATTAGTTACCAC... | AGCTCCATCCAGCAGTTAACTTCTTATTTTGTTCACAACCATATGCTCAGTCCTTAGTACTATATAAGGCACATAATAGGCATGTAGAACATATACAGAATAAACAAATAACCATGATTACAATCATCCTTATAATTTTTCCAGCCAACAATAATTTTAAAATTTGAAAACAATTCAAAATAAAATTAATGACAATTACATCCTAGGGAATACAAAAAGACATACCTCCAGTTCATTTTCCAGTTTCATTACTTTAGTTTTTAATTGATTTTCTATTTTTTTAAAAAAAAAGAAAAACGTTTTAATTGATTAGTTACCAC... | pathogenic | 200,681 |
Gene TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3) variant at chromosome 12, position 88172581—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGATGGTAGTGATTTTCCTCAGATTCAGTGTTGCCTTATTACAAATCATTAATGTGTGAACATTTGTGGAGAGTATTCTTTTCAATGTATACACCTCTATATTTCACAAATTAAGTCAAATAGAAAAAAAGGACATTCTTTCACCTTAGCCCATTAGAAGAGTCTCAAACTTGTGAAGCTAAAGGTTTAACTTGTTTATTCAATTAAGTACTGTAAAACAAATCGGGGTAACAAAATATGGAAGCAGATGTCCATAGAAACAGATTTCCTAATAACGACCAAACTTATTTCCTTCACAAGCTATTTATGTGCTAGTTTTT... | TGATGGTAGTGATTTTCCTCAGATTCAGTGTTGCCTTATTACAAATCATTAATGTGTGAACATTTGTGGAGAGTATTCTTTTCAATGTATACACCTCTATATTTCACAAATTAAGTCAAATAGAAAAAAAGGACATTCTTTCACCTTAGCCCATTAGAAGAGTCTCAAACTTGTGAAGCTAAAGGTTTAACTTGTTTATTCAATTAAGTACTGTAAAACAAATCGGGGTAACAAAATATGGAAGCAGATGTCCATAGAAACAGATTTCCTAATAACGACCAAACTTATTTCCTTCACAAGCTATTTATGTGCTAGTTTTT... | benign | 200,700 |
Is the variant located on chromosome 12 at position 88172581, gene TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGATGGTAGTGATTTTCCTCAGATTCAGTGTTGCCTTATTACAAATCATTAATGTGTGAACATTTGTGGAGAGTATTCTTTTCAATGTATACACCTCTATATTTCACAAATTAAGTCAAATAGAAAAAAAGGACATTCTTTCACCTTAGCCCATTAGAAGAGTCTCAAACTTGTGAAGCTAAAGGTTTAACTTGTTTATTCAATTAAGTACTGTAAAACAAATCGGGGTAACAAAATATGGAAGCAGATGTCCATAGAAACAGATTTCCTAATAACGACCAAACTTATTTCCTTCACAAGCTATTTATGTGCTAGTTTTT... | TGATGGTAGTGATTTTCCTCAGATTCAGTGTTGCCTTATTACAAATCATTAATGTGTGAACATTTGTGGAGAGTATTCTTTTCAATGTATACACCTCTATATTTCACAAATTAAGTCAAATAGAAAAAAAGGACATTCTTTCACCTTAGCCCATTAGAAGAGTCTCAAACTTGTGAAGCTAAAGGTTTAACTTGTTTATTCAATTAAGTACTGTAAAACAAATCGGGGTAACAAAATATGGAAGCAGATGTCCATAGAAACAGATTTCCTAATAACGACCAAACTTATTTCCTTCACAAGCTATTTATGTGCTAGTTTTT... | benign | 200,701 |
Evaluate the clinical significance of the mutation at chromosome 12, position 88532513 in gene KITLG (KIT ligand): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGAAAAGTGTTATAAAAAGGCCACATAATCCCCCCTGCCTGCCTTCCCAATTACTAAACTTTTTGAACTAAAGATCATTGCCTAATTGGTGTGTGTTTGTTTCTTCAAGTGTCTGCCAAAGTGCTGGCTCCTGGTTAGTTTTTCCTAACTAAATACTTGCTTAGTAACCAAATAATAAAATTAATTAACTTTCAGGCTGCTAATAATTTTCCATTTCTATTTCCAGAGAACTCCCCCTAACTCAATAGGATAGACATTGACATAGGCTTGAGGATAAATGGTTCAACATGAAGATACATGTTCTAAGGAATTCTAAAAAA... | GGAAAAGTGTTATAAAAAGGCCACATAATCCCCCCTGCCTGCCTTCCCAATTACTAAACTTTTTGAACTAAAGATCATTGCCTAATTGGTGTGTGTTTGTTTCTTCAAGTGTCTGCCAAAGTGCTGGCTCCTGGTTAGTTTTTCCTAACTAAATACTTGCTTAGTAACCAAATAATAAAATTAATTAACTTTCAGGCTGCTAATAATTTTCCATTTCTATTTCCAGAGAACTCCCCCTAACTCAATAGGATAGACATTGACATAGGCTTGAGGATAAATGGTTCAACATGAAGATACATGTTCTAAGGAATTCTAAAAAA... | benign | 200,723 |
Gene mutation in POC1B (POC1 centriolar protein B) at chromosome 12, position 89425160—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cone-rod_dystrophy_20'] | TTCCCACCTCGGTCTCCTGGGTAGCTGTGACCATAGGTGCGTGCCACCCTGCTCGGCTAATTAACTTGTTGTTGCTGTTGTTGTTGTTGTAGAAATGAGGTCTTAGCATTTTGGGAGGCCGAGCTGGGCGAATCGCTTGAGCCCAGGAGTTTTAGACGAGCCTAGGCAACATAGCGAGACACTGTCTCTAAATAATAAAGAATAAAAGAAGAAATGGGGTCTCACTATATTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTTCTGCCTCGGCTGCCCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGC... | TTCCCACCTCGGTCTCCTGGGTAGCTGTGACCATAGGTGCGTGCCACCCTGCTCGGCTAATTAACTTGTTGTTGCTGTTGTTGTTGTTGTAGAAATGAGGTCTTAGCATTTTGGGAGGCCGAGCTGGGCGAATCGCTTGAGCCCAGGAGTTTTAGACGAGCCTAGGCAACATAGCGAGACACTGTCTCTAAATAATAAAGAATAAAAGAAGAAATGGGGTCTCACTATATTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTTCTGCCTCGGCTGCCCAAAGTGCTGGGATTATAGGTGTGAGCCATTGTGC... | pathogenic | 200,739 |
Gene mutation in POC1B (POC1 centriolar protein B) at chromosome 12, position 89459670—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinal_dystrophy'] | TGTTTGCTGGATTTTTATATACTAGTGGAGTCTTCCTTTTAATGCGTATATATTGGGTGAAACCATGTGAAGTCATTGATATTAGACTGTTTTTGCCTACAAAATGACAATTTCATATAATTCAACCTAATATTATCCTTTGTGGATAATAATTTTACTCTTCCATTTTATTATTCTGTTTTGTAGCACAGCTATTAAATGTCATGTGTTTGTTATACAGAACTGTCTTCTCAAAGTCCCACATACCCCATATATTCCTCGAGTTATGGTCCTGTATTATAGATGTATACTACAACAGACACATATGATCTACAATAGAT... | TGTTTGCTGGATTTTTATATACTAGTGGAGTCTTCCTTTTAATGCGTATATATTGGGTGAAACCATGTGAAGTCATTGATATTAGACTGTTTTTGCCTACAAAATGACAATTTCATATAATTCAACCTAATATTATCCTTTGTGGATAATAATTTTACTCTTCCATTTTATTATTCTGTTTTGTAGCACAGCTATTAAATGTCATGTGTTTGTTATACAGAACTGTCTTCTCAAAGTCCCACATACCCCATATATTCCTCGAGTTATGGTCCTGTATTATAGATGTATACTACAACAGACACATATGATCTACAATAGAT... | pathogenic | 200,744 |
Assess the variant on chromosome 12, position 89472276, impacting POC1B (POC1 centriolar protein B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cone-rod_dystrophy_20'] | AAAATTTTATGATAGCAGCAATGTGTGCTATGTCTGGAAAAACAATAAAGGGACATAAAAATGGATCAGAAATTTAAAATATATATTATTTTATATTTTTATATATAAAAAGCAAGAATCTGAGTGTTAATACCGTATGTCCTTGAAGTGTATAGATGAGCCTTCCTTCTAAGAGGTCCAGAATCTTAAGGGTACCATCTGAAGAAGCTGTGATGAGATAGTTACCCGAAGGATGGAATGATATGCAATTAACTCCACCGCTGTGAACTGATTTGTAGAAAATAAAAGCAAAAAGTTCAGAGAACAATTCTTACTTTTGA... | AAAATTTTATGATAGCAGCAATGTGTGCTATGTCTGGAAAAACAATAAAGGGACATAAAAATGGATCAGAAATTTAAAATATATATTATTTTATATTTTTATATATAAAAAGCAAGAATCTGAGTGTTAATACCGTATGTCCTTGAAGTGTATAGATGAGCCTTCCTTCTAAGAGGTCCAGAATCTTAAGGGTACCATCTGAAGAAGCTGTGATGAGATAGTTACCCGAAGGATGGAATGATATGCAATTAACTCCACCGCTGTGAACTGATTTGTAGAAAATAAAAGCAAAAAGTTCAGAGAACAATTCTTACTTTTGA... | pathogenic | 200,751 |
Determine if the mutation at chromosome 12, position 89472277 in gene POC1B (POC1 centriolar protein B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAATTTTATGATAGCAGCAATGTGTGCTATGTCTGGAAAAACAATAAAGGGACATAAAAATGGATCAGAAATTTAAAATATATATTATTTTATATTTTTATATATAAAAAGCAAGAATCTGAGTGTTAATACCGTATGTCCTTGAAGTGTATAGATGAGCCTTCCTTCTAAGAGGTCCAGAATCTTAAGGGTACCATCTGAAGAAGCTGTGATGAGATAGTTACCCGAAGGATGGAATGATATGCAATTAACTCCACCGCTGTGAACTGATTTGTAGAAAATAAAAGCAAAAAGTTCAGAGAACAATTCTTACTTTTGAA... | AAATTTTATGATAGCAGCAATGTGTGCTATGTCTGGAAAAACAATAAAGGGACATAAAAATGGATCAGAAATTTAAAATATATATTATTTTATATTTTTATATATAAAAAGCAAGAATCTGAGTGTTAATACCGTATGTCCTTGAAGTGTATAGATGAGCCTTCCTTCTAAGAGGTCCAGAATCTTAAGGGTACCATCTGAAGAAGCTGTGATGAGATAGTTACCCGAAGGATGGAATGATATGCAATTAACTCCACCGCTGTGAACTGATTTGTAGAAAATAAAAGCAAAAAGTTCAGAGAACAATTCTTACTTTTGAA... | benign | 200,752 |
Assess the variant on chromosome 12, position 89497298, impacting POC1B (POC1 centriolar protein B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cone-rod_dystrophy_20'] | CTGAAGTTATGCTGTGCAGAAGATAGTAAAAAAGCTAGTTCTAAATTCCCAAAGTTAAGGGTTTTGGAACATGCTTCTCCTCTTGGACCCCAAACTAGTTACTTCTCCCTTAAAATTCCCTGCTACATTGCCATCCATTATAACATGTCACTTCTCTTCAATAGTTTTCACTACCATTGGAATATATTCAGATTTCTCAGCATAGAGTTCCCCTTGGGTGGTGGCAGAAAAAAAGCACCCACTGGCATGGGAATGCCCATGAGCTTTTCTTCATTTGGGAGTGCCTGGGCCTGAATAGTCACAGACTACAAGTCAAATCC... | CTGAAGTTATGCTGTGCAGAAGATAGTAAAAAAGCTAGTTCTAAATTCCCAAAGTTAAGGGTTTTGGAACATGCTTCTCCTCTTGGACCCCAAACTAGTTACTTCTCCCTTAAAATTCCCTGCTACATTGCCATCCATTATAACATGTCACTTCTCTTCAATAGTTTTCACTACCATTGGAATATATTCAGATTTCTCAGCATAGAGTTCCCCTTGGGTGGTGGCAGAAAAAAAGCACCCACTGGCATGGGAATGCCCATGAGCTTTTCTTCATTTGGGAGTGCCTGGGCCTGAATAGTCACAGACTACAAGTCAAATCC... | pathogenic | 200,760 |
The chromosome 12, position 93678822 genetic variant in gene CRADD (CASP2 and RIPK1 domain containing adaptor with death domain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | AGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCGCAGCTGTCTTGCCGTTTTAATCAGATAGGTCAGAGAAGGCTTCTCT... | AGCCCTTCTCCAGCCTTTCCAATGATTTCGAATGTCCCCAATTCCCCCTAACGAATCCCTTTCTGACTAGGAGTAACTAGCTGAGTGCTGCAATGAAATCCTGACTGACAGATTTGTAAACTCTTTGCGGGCAGGAACCCTTGATATAAATAAATGACCTTGCATTTTAATGGAGGGAAGCAGAAGGATAAACAAATGAATAAGTGAAAAGTTTTAATAAGATGGTGATGCGTAAAAAATAAAGCTGGTTAATGGGGAGTGCAGGAAATGAGCGCAGCTGTCTTGCCGTTTTAATCAGATAGGTCAGAGAAGGCTTCTCT... | pathogenic | 200,790 |
Mutation found at chromosome 12 position 94308911, gene CEP83 (centrosomal protein 83): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Nephronophthisis_18'] | TGTCTGTCCAACGGACACACCTCAAACAAACAAAACTACCAAATAGATGACAGATCAGAATAAAGGTGAGAGGTCTGGTCCCCATTGAAGGCTGCTACAGTCTTCAAAGAGGTGAAGGAGTTCATAAGAGAACAACAGTAGGAAAGTTGAGAGCCAAGGGTAGGAGAGTTGCCCAAAAGACTTCCCCTACTACTTTAGGGTACTGAAAACTCAAAGGATCAGCTACAGCTTTATCTAAGTATTTACTAAATGCTACATGAGGGTGTCCCTGTCCAGCTTTCTGGCACATGAGTCCTGTGTGGAGAGTTACCTCCTCTTCC... | TGTCTGTCCAACGGACACACCTCAAACAAACAAAACTACCAAATAGATGACAGATCAGAATAAAGGTGAGAGGTCTGGTCCCCATTGAAGGCTGCTACAGTCTTCAAAGAGGTGAAGGAGTTCATAAGAGAACAACAGTAGGAAAGTTGAGAGCCAAGGGTAGGAGAGTTGCCCAAAAGACTTCCCCTACTACTTTAGGGTACTGAAAACTCAAAGGATCAGCTACAGCTTTATCTAAGTATTTACTAAATGCTACATGAGGGTGTCCCTGTCCAGCTTTCTGGCACATGAGTCCTGTGTGGAGAGTTACCTCCTCTTCC... | pathogenic | 200,816 |
Gene CEP83 (centrosomal protein 83) variant at chromosome position 94368182 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nephronophthisis_18'] | TTTTGTTTTTTTTTGGTGTATTATAGTTCTGTCCTTTAGAACCATGTAGACATTCCAAATGCCCAACATATTAATAAATAAATAAACAAGGATGAGGTATGGACTCAAAACAGAATAGAATAGAAAGAATAAACCTGCTTTATAAGTGAATAACAAACCACATTAAAGGAGAATTTGGTGAGAAAAATCCTAAGTAACTTTGGAAAATAATATTTTGACTATATACTCTAAGGCTAAAGATAAAAACAACTATACACAAATATTACATGTAAGTTAATAGGTTTGTTTTTCATTGAGTGATGAGTTAGCAATTCTAAAAC... | TTTTGTTTTTTTTTGGTGTATTATAGTTCTGTCCTTTAGAACCATGTAGACATTCCAAATGCCCAACATATTAATAAATAAATAAACAAGGATGAGGTATGGACTCAAAACAGAATAGAATAGAAAGAATAAACCTGCTTTATAAGTGAATAACAAACCACATTAAAGGAGAATTTGGTGAGAAAAATCCTAAGTAACTTTGGAAAATAATATTTTGACTATATACTCTAAGGCTAAAGATAAAAACAACTATACACAAATATTACATGTAAGTTAATAGGTTTGTTTTTCATTGAGTGATGAGTTAGCAATTCTAAAAC... | pathogenic | 200,826 |
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