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 |
|---|---|---|---|---|---|
Variant at chromosome 12, position 57749445, gene CDK4: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATACTGGATCACCTCAACATACCCTGGTGTGGCTCTAAGGGTAAATCAGGGATAGGGCCAAGGAGAAAACAACCAAGAACTCTTTCCTGTAATAAGCAGGATCCAGTTTGAGAAAGTTTAGCGAATAT... | CCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATACTGGATCACCTCAACATACCCTGGTGTGGCTCTAAGGGTAAATCAGGGATAGGGCCAAGGAGAAAACAACCAAGAACTCTTTCCTGTAATAAGCAGGATCCAGTTTGAGAAAGTTTAGCGAATAT... | benign | 199,024 |
Gene mutation in CYP27B1 (cytochrome P450 family 27 subfamily B member 1) at chromosome 12, position 57763698—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['CYP27B1-related_disorder', 'Inborn_genetic_diseases', 'Vitamin_D-dependent_rickets,_type_1', 'Vitamin_D-dependent_rickets,_type_1A'] | GCAAGTCCTGACATGGGAAGGGTAATCTGGGATGCAGAAGGAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGT... | GCAAGTCCTGACATGGGAAGGGTAATCTGGGATGCAGAAGGAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGT... | pathogenic | 199,225 |
Located at chromosome 12 position 57766130, the variant affecting gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['CYP27B1-related_disorder', 'Vitamin_D-dependent_rickets,_type_1A'] | CATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCTCCTCTCCTTCCCCCTCACCTTAGCACTTCCTTGACCACCGCC... | CATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCTCCTCTCCTTCCCCCTCACCTTAGCACTTCCTTGACCACCGCC... | pathogenic | 199,244 |
Considering the variant on chromosome 12, location 57766189, involving gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Vitamin_D-dependent_rickets,_type_1A'] | GGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCTCCTCTCCTTCCCCCTCACCTTAGCACTTCCTTGACCACCGCCTTCAGCAGGGGCAGCTGGGACAGAACAGTGGCTGAGGGGTAGGCACTGGAGCCAGGGCT... | GGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCTCCTCTCCTTCCCCCTCACCTTAGCACTTCCTTGACCACCGCCTTCAGCAGGGGCAGCTGGGACAGAACAGTGGCTGAGGGGTAGGCACTGGAGCCAGGGCT... | pathogenic | 199,245 |
Evaluate the clinical significance of the mutation at chromosome 12, position 57766870 in gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Vitamin_D-dependent_rickets,_type_1A'] | GGAACAGGAAGTGGGTCAGGTGCGCCCCAGACTCCAGGTCCTTCTCGGGCTGTCCTCCGTTCCTCATGGCTGCCTCTGCCTCTCGCCGCTCCACGTGCCTCTGAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAG... | GGAACAGGAAGTGGGTCAGGTGCGCCCCAGACTCCAGGTCCTTCTCGGGCTGTCCTCCGTTCCTCATGGCTGCCTCTGCCTCTCGCCGCTCCACGTGCCTCTGAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAG... | pathogenic | 199,248 |
Variant at chromosome position 57766972, chromosome 12, gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Vitamin_D-dependent_rickets,_type_1A'] | GAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAGGTCTCCGTGTCGGGTGGCACTTGAGCCTCCAGGCAGCCCAAGCGCGAGCCGAGCAGAACCGCGGCGATGCCTTGTCGGGAGGGGGCGCCGTCAGGGTTCCGG... | GAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAGGTCTCCGTGTCGGGTGGCACTTGAGCCTCCAGGCAGCCCAAGCGCGAGCCGAGCAGAACCGCGGCGATGCCTTGTCGGGAGGGGGCGCCGTCAGGGTTCCGG... | pathogenic | 199,249 |
Gene mutation in TSFM (Ts translation elongation factor, mitochondrial) at chromosome 12, position 57782825—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | CTTCCCTCTTTGTTACCCCAGATACTCTTGGGCAGGTGCAGTGAGGTGCCTGCTTACAAGGAATCCCAGAGTTCTGGCAGCACTAGTGTTAGAACACCAAGGAGGTTCCTGGCTCCTGTTCTCAGAGAAGGAGGATGGTAAGGTATCCAGGATTTTTAGGGGGTAAGGGAGATATATGGGATGTGAGAGCAGTGATTGTAGACAGACTGTCACTGATCACTTCCATTCCTGTTGCTGTTTACACAGAATGGACTTTAAAAAAATTCTGTGGGATTTTTTTTTCTTTTTTTCTTTTTTTTTGAGACAGGGTCTCACTCTGT... | CTTCCCTCTTTGTTACCCCAGATACTCTTGGGCAGGTGCAGTGAGGTGCCTGCTTACAAGGAATCCCAGAGTTCTGGCAGCACTAGTGTTAGAACACCAAGGAGGTTCCTGGCTCCTGTTCTCAGAGAAGGAGGATGGTAAGGTATCCAGGATTTTTAGGGGGTAAGGGAGATATATGGGATGTGAGAGCAGTGATTGTAGACAGACTGTCACTGATCACTTCCATTCCTGTTGCTGTTTACACAGAATGGACTTTAAAAAAATTCTGTGGGATTTTTTTTTCTTTTTTTCTTTTTTTTTGAGACAGGGTCTCACTCTGT... | pathogenic | 199,256 |
Clinically, how would you classify the variant at chromosome 12, position 57782833, gene TSFM (Ts translation elongation factor, mitochondrial): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TTTGTTACCCCAGATACTCTTGGGCAGGTGCAGTGAGGTGCCTGCTTACAAGGAATCCCAGAGTTCTGGCAGCACTAGTGTTAGAACACCAAGGAGGTTCCTGGCTCCTGTTCTCAGAGAAGGAGGATGGTAAGGTATCCAGGATTTTTAGGGGGTAAGGGAGATATATGGGATGTGAGAGCAGTGATTGTAGACAGACTGTCACTGATCACTTCCATTCCTGTTGCTGTTTACACAGAATGGACTTTAAAAAAATTCTGTGGGATTTTTTTTTCTTTTTTTCTTTTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGG... | TTTGTTACCCCAGATACTCTTGGGCAGGTGCAGTGAGGTGCCTGCTTACAAGGAATCCCAGAGTTCTGGCAGCACTAGTGTTAGAACACCAAGGAGGTTCCTGGCTCCTGTTCTCAGAGAAGGAGGATGGTAAGGTATCCAGGATTTTTAGGGGGTAAGGGAGATATATGGGATGTGAGAGCAGTGATTGTAGACAGACTGTCACTGATCACTTCCATTCCTGTTGCTGTTTACACAGAATGGACTTTAAAAAAATTCTGTGGGATTTTTTTTTCTTTTTTTCTTTTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGG... | pathogenic | 199,258 |
Variant chromosome 12, position 57787074, gene TSFM (Ts translation elongation factor, mitochondrial): benign or pathogenic? Disease(s)? | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | ACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACAGCGCCTGGCCAAAACTTTTTTTAAGTTAAAAAATTGTTTTGTTAAAAACGGAGACACAAACACATACATTAGCCTAGGCCTACACAGGAGTGGCATCATCATTAACACTGTGTTCCACTTTCACATCTTG... | ACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACAGCGCCTGGCCAAAACTTTTTTTAAGTTAAAAAATTGTTTTGTTAAAAACGGAGACACAAACACATACATTAGCCTAGGCCTACACAGGAGTGGCATCATCATTAACACTGTGTTCCACTTTCACATCTTG... | pathogenic | 199,272 |
Is the variant located on chromosome 12 at position 57787085, gene TSFM (Ts translation elongation factor, mitochondrial), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACAGCGCCTGGCCAAAACTTTTTTTAAGTTAAAAAATTGTTTTGTTAAAAACGGAGACACAAACACATACATTAGCCTAGGCCTACACAGGAGTGGCATCATCATTAACACTGTGTTCCACTTTCACATCTTGTCCTGCTGGAA... | CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTGTCGGGATTACAGGCGTGAGCCACAGCGCCTGGCCAAAACTTTTTTTAAGTTAAAAAATTGTTTTGTTAAAAACGGAGACACAAACACATACATTAGCCTAGGCCTACACAGGAGTGGCATCATCATTAACACTGTGTTCCACTTTCACATCTTGTCCTGCTGGAA... | pathogenic | 199,274 |
Is the genetic variant on chromosome 12, position 57793052, gene TSFM (Ts translation elongation factor, mitochondrial), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | CCAGATTTTTTTTTTTTTTTTTTAAGATGGAGTTTCACTCTCATTAGCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAGCCACCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGGGCCACCGCGCCCGGCCGGCCAGGTTCAATT... | CCAGATTTTTTTTTTTTTTTTTTAAGATGGAGTTTCACTCTCATTAGCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAGCCACCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGGGCCACCGCGCCCGGCCGGCCAGGTTCAATT... | pathogenic | 199,279 |
A genetic variant at chromosome 12, position 57796202, affecting gene TSFM (Ts translation elongation factor, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | CTATGTATGAGGCTTATTAAGAAATTCTGGAAGAGCTGGGTGTTTCAGCCTTGTCAGTTTCTGGGAATTAACTATTGGGTATATGCTTTGAGCTATTTTAAAATTTGTTTTGGTTTCTGGATTCTCCTTTTTCATGACTTTTAGATATGACTATGGCTAATCCAGGCATACTTATACAGACCCTTTTGTTTATTCTCCTACCCCTTTTTACCTTTTGGCTTATTTGGACTTCTGTTAGAAGAGAATAACATCCTGAGAGAAAGGGGAAAAATAAGTTAAAATCTGTTTCTGGTTCTCATAAATAACTCTTGACAATGTTA... | CTATGTATGAGGCTTATTAAGAAATTCTGGAAGAGCTGGGTGTTTCAGCCTTGTCAGTTTCTGGGAATTAACTATTGGGTATATGCTTTGAGCTATTTTAAAATTTGTTTTGGTTTCTGGATTCTCCTTTTTCATGACTTTTAGATATGACTATGGCTAATCCAGGCATACTTATACAGACCCTTTTGTTTATTCTCCTACCCCTTTTTACCTTTTGGCTTATTTGGACTTCTGTTAGAAGAGAATAACATCCTGAGAGAAAGGGGAAAAATAAGTTAAAATCTGTTTCTGGTTCTCATAAATAACTCTTGACAATGTTA... | pathogenic | 199,282 |
The genetic variant at chromosome 12, position 57796402, affecting gene TSFM (Ts translation elongation factor, mitochondrial): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | CCCCTTTTTACCTTTTGGCTTATTTGGACTTCTGTTAGAAGAGAATAACATCCTGAGAGAAAGGGGAAAAATAAGTTAAAATCTGTTTCTGGTTCTCATAAATAACTCTTGACAATGTTATCTTTTCTGTTTTTGATGAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTG... | CCCCTTTTTACCTTTTGGCTTATTTGGACTTCTGTTAGAAGAGAATAACATCCTGAGAGAAAGGGGAAAAATAAGTTAAAATCTGTTTCTGGTTCTCATAAATAACTCTTGACAATGTTATCTTTTCTGTTTTTGATGAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTG... | pathogenic | 199,288 |
Variant at chromosome position 57796512, chromosome 12, gene TSFM (Ts translation elongation factor, mitochondrial): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3'] | GACAATGTTATCTTTTCTGTTTTTGATGAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACG... | GACAATGTTATCTTTTCTGTTTTTGATGAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACG... | pathogenic | 199,290 |
Is the variant located on chromosome 12 at position 63780051, gene RXYLT1 (ribitol xylosyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | CAGGTATCACAAGAAATTTGTACTGGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCA... | CAGGTATCACAAGAAATTTGTACTGGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCA... | pathogenic | 199,324 |
Is the genetic mutation found on chromosome 12 at position 63780075, within the gene RXYLT1 (ribitol xylosyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCACCACATCTCTTTCCCTCTCTTTCC... | GGGGACTTCTAAGAATAAGCGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCACCACATCTCTTTCCCTCTCTTTCC... | pathogenic | 199,325 |
Gene RXYLT1 (ribitol xylosyltransferase 1) variant at chromosome position 63780094 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10'] | CGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCACCACATCTCTTTCCCTCTCTTTCCATCCACCTGAAGAGATGAG... | CGTGTACTATTTCACAGTCAACTAGAAGAAGGCATTAGGACATTAGGGCTATTTTCTCAATATCTTGTTGATTAATAGTTCTTCCCTTTGCAGACAGAGTAGAAAATTTCACCAAGTAAAGATTTTAGCCCTGCTTTAGTTTAATTCATCTCATATTCCTTTATTTCTATTCTTCCTCCCACATCTTTCCTTCTCAGGTCTGGTTCCCTATATGCGGAGCTTCAACCCCCAGAGGATATTTAACCTTGTCTCCCCCTCCACACTGCTGCATTCCCCACCACATCTCTTTCCCTCTCTTTCCATCCACCTGAAGAGATGAG... | pathogenic | 199,327 |
Is the variant located on chromosome 12 at position 63802301, gene RXYLT1 (ribitol xylosyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | GAATAATGAACTCCTCAGAGTTGTTGGGGGGGTTAATGATGACCCATGCAAAGTGCTTATGTATCATGTATATAAAAGGCGTTGAACAAATGTTTTTATCCCCAGCAGTAAGAAGCAATGAAAGTAGGCTTTGGGTATATTTGTGCTGAAAATTAGATTCTATCAGGATATAAAGAAATGGTTTAAGCAAGTTGTAAAGAATCTAGGATAAGAGTGACTAATTTTAAGATGAATTAAATGGTACTTGTTCTATTTAATACATACTAGTGAAAATATTTCAATGGTACTGGTTGTTCTAGGCAGCACTTAATATGAAAAAA... | GAATAATGAACTCCTCAGAGTTGTTGGGGGGGTTAATGATGACCCATGCAAAGTGCTTATGTATCATGTATATAAAAGGCGTTGAACAAATGTTTTTATCCCCAGCAGTAAGAAGCAATGAAAGTAGGCTTTGGGTATATTTGTGCTGAAAATTAGATTCTATCAGGATATAAAGAAATGGTTTAAGCAAGTTGTAAAGAATCTAGGATAAGAGTGACTAATTTTAAGATGAATTAAATGGTACTTGTTCTATTTAATACATACTAGTGAAAATATTTCAATGGTACTGGTTGTTCTAGGCAGCACTTAATATGAAAAAA... | pathogenic | 199,339 |
Regarding the variant at chromosome 12 and position 63808823, affecting gene RXYLT1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_10'] | CATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGTCATTACACATACTGCACCTTCTGAACATGATCTCAAGTCCCAGCATCTCTTTCTACAACCACCATC... | CATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGTCATTACACATACTGCACCTTCTGAACATGATCTCAAGTCCCAGCATCTCTTTCTACAACCACCATC... | pathogenic | 199,350 |
Located at chromosome 12 position 64464320, the variant affecting gene TBK1 (TANK binding kinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTAAAGTTAATTTTTTACCACACAATAGTTAAGTGGTAATGAAAAGAGATATTTACCAAAATTTTAATCTTCTTGGAACACCTTATATATGATGTTATGTGAGAAGAATCAGGATTAAAAATATATATGTAGTATGATCTTAACATATACAGTGTAATATGCAAACAGCATTATGTATCTATGACATTATTTCATCCATAGAAAAAAGACTGAAAGAAAATACGCCAAAATATTAATTCATTATCTCCAGGTAATGGAATTATGTATACTTCCCAAATTTTCAACAATCAACATACATTATCATTTAAAAGCAACAGTTT... | GTAAAGTTAATTTTTTACCACACAATAGTTAAGTGGTAATGAAAAGAGATATTTACCAAAATTTTAATCTTCTTGGAACACCTTATATATGATGTTATGTGAGAAGAATCAGGATTAAAAATATATATGTAGTATGATCTTAACATATACAGTGTAATATGCAAACAGCATTATGTATCTATGACATTATTTCATCCATAGAAAAAAGACTGAAAGAAAATACGCCAAAATATTAATTCATTATCTCCAGGTAATGGAATTATGTATACTTCCCAAATTTTCAACAATCAACATACATTATCATTTAAAAGCAACAGTTT... | benign | 199,374 |
Is the chromosome 12, position 64474211 variant in TBK1 (TANK binding kinase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTCAATACCCAGTTCTTATACTTGTCTGCATTCTGATTTCTCATTAAAATGTGTTTCTCAAAAGAGTCTTTTTCCCACCCCCATCTCCAGCACCCCCCCACCACCCCGACCCTCAGAAATCAGAGATTGTGATCCTTTGGGAGTGAGAGTCACAGATTGCATCATTTAGAAGCCCCTCCCAGCAGCATTTCCTACACTGGTTCCCAGTTCCCTGGGCCATAGCTAAATCCTACAATGTCATAAGGAATTGTTTTGGTTTGGGATCATTTAGGTGGTAACTCTACTTTGGTCCATACGTACACTTTTCAAGATTTATCTTC... | GTCAATACCCAGTTCTTATACTTGTCTGCATTCTGATTTCTCATTAAAATGTGTTTCTCAAAAGAGTCTTTTTCCCACCCCCATCTCCAGCACCCCCCCACCACCCCGACCCTCAGAAATCAGAGATTGTGATCCTTTGGGAGTGAGAGTCACAGATTGCATCATTTAGAAGCCCCTCCCAGCAGCATTTCCTACACTGGTTCCCAGTTCCCTGGGCCATAGCTAAATCCTACAATGTCATAAGGAATTGTTTTGGTTTGGGATCATTTAGGTGGTAACTCTACTTTGGTCCATACGTACACTTTTCAAGATTTATCTTC... | benign | 199,380 |
Mutation at chromosome 12, position 64474211, within TBK1 (TANK binding kinase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GTCAATACCCAGTTCTTATACTTGTCTGCATTCTGATTTCTCATTAAAATGTGTTTCTCAAAAGAGTCTTTTTCCCACCCCCATCTCCAGCACCCCCCCACCACCCCGACCCTCAGAAATCAGAGATTGTGATCCTTTGGGAGTGAGAGTCACAGATTGCATCATTTAGAAGCCCCTCCCAGCAGCATTTCCTACACTGGTTCCCAGTTCCCTGGGCCATAGCTAAATCCTACAATGTCATAAGGAATTGTTTTGGTTTGGGATCATTTAGGTGGTAACTCTACTTTGGTCCATACGTACACTTTTCAAGATTTATCTTC... | GTCAATACCCAGTTCTTATACTTGTCTGCATTCTGATTTCTCATTAAAATGTGTTTCTCAAAAGAGTCTTTTTCCCACCCCCATCTCCAGCACCCCCCCACCACCCCGACCCTCAGAAATCAGAGATTGTGATCCTTTGGGAGTGAGAGTCACAGATTGCATCATTTAGAAGCCCCTCCCAGCAGCATTTCCTACACTGGTTCCCAGTTCCCTGGGCCATAGCTAAATCCTACAATGTCATAAGGAATTGTTTTGGTTTGGGATCATTTAGGTGGTAACTCTACTTTGGTCCATACGTACACTTTTCAAGATTTATCTTC... | benign | 199,381 |
Considering the genetic mutation at chromosome 12, position 64488477, impacting TBK1 (TANK binding kinase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACACCGTATTTTTTTTTTTTCTTTTTGAGACAGGGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGATCACTGCAGCCTGAAACTCCTGGCCTCAAGTGATCCTACCACCTCACCTTCCCAAGTACCTGGGACTATAGGCATGCCCCACCACACCCAGCTAATTTTTTTTTTTTTAGTGATGGGGGGTCTAGTTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAGGCAATCAGCCCGCCTCAGCTGGGATTATAGGCATGAGCCACACCCAGCCTTCACAACATTGAGATATAATTCATATACT... | ACACCGTATTTTTTTTTTTTCTTTTTGAGACAGGGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGATCACTGCAGCCTGAAACTCCTGGCCTCAAGTGATCCTACCACCTCACCTTCCCAAGTACCTGGGACTATAGGCATGCCCCACCACACCCAGCTAATTTTTTTTTTTTTAGTGATGGGGGGTCTAGTTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAGGCAATCAGCCCGCCTCAGCTGGGATTATAGGCATGAGCCACACCCAGCCTTCACAACATTGAGATATAATTCATATACT... | benign | 199,403 |
Does the variant on chromosome 12 at location 64488488 affecting gene TBK1 (TANK binding kinase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4'] | TTTTTTTTTCTTTTTGAGACAGGGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGATCACTGCAGCCTGAAACTCCTGGCCTCAAGTGATCCTACCACCTCACCTTCCCAAGTACCTGGGACTATAGGCATGCCCCACCACACCCAGCTAATTTTTTTTTTTTTAGTGATGGGGGGTCTAGTTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAGGCAATCAGCCCGCCTCAGCTGGGATTATAGGCATGAGCCACACCCAGCCTTCACAACATTGAGATATAATTCATATACTATATAACTCAT... | TTTTTTTTTCTTTTTGAGACAGGGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGATCACTGCAGCCTGAAACTCCTGGCCTCAAGTGATCCTACCACCTCACCTTCCCAAGTACCTGGGACTATAGGCATGCCCCACCACACCCAGCTAATTTTTTTTTTTTTAGTGATGGGGGGTCTAGTTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAGGCAATCAGCCCGCCTCAGCTGGGATTATAGGCATGAGCCACACCCAGCCTTCACAACATTGAGATATAATTCATATACTATATAACTCAT... | pathogenic | 199,404 |
The chromosome 12, position 64497220 genetic variant in gene TBK1 (TANK binding kinase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis', 'Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_4', 'TBK1-related_disorder'] | GAATTAACCACTTTTTACAGATAAGGAAACAAGATTAGAAGTATTTTACATGTGGTTTTAGAAGGGTGTTTACTGAATGAACTGTTTTATAAGATGTATTACTGCTGGTCTCATGTTTTATTATCATACTGTACCCCTGGTGGAAATCAACCTAAGAAACTCTTTTGTATTTAAAAATGGAAATAATTACTGTGCCTTTGAATTGAAGTAATCTACAAAAGAAATGTGGTCCAGACTTTAGACTTTGTTGGGACTGTGATGATCATTTCTGGCTTTTGGCAATCTGGATCTGAACCTTTGGTTTTATTTAGCTTTCCAGT... | GAATTAACCACTTTTTACAGATAAGGAAACAAGATTAGAAGTATTTTACATGTGGTTTTAGAAGGGTGTTTACTGAATGAACTGTTTTATAAGATGTATTACTGCTGGTCTCATGTTTTATTATCATACTGTACCCCTGGTGGAAATCAACCTAAGAAACTCTTTTGTATTTAAAAATGGAAATAATTACTGTGCCTTTGAATTGAAGTAATCTACAAAAGAAATGTGGTCCAGACTTTAGACTTTGTTGGGACTGTGATGATCATTTCTGGCTTTTGGCAATCTGGATCTGAACCTTTGGTTTTATTTAGCTTTCCAGT... | pathogenic | 199,412 |
A genetic variant at chromosome 12, position 64497252, affecting gene TBK1 (TANK binding kinase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GATTAGAAGTATTTTACATGTGGTTTTAGAAGGGTGTTTACTGAATGAACTGTTTTATAAGATGTATTACTGCTGGTCTCATGTTTTATTATCATACTGTACCCCTGGTGGAAATCAACCTAAGAAACTCTTTTGTATTTAAAAATGGAAATAATTACTGTGCCTTTGAATTGAAGTAATCTACAAAAGAAATGTGGTCCAGACTTTAGACTTTGTTGGGACTGTGATGATCATTTCTGGCTTTTGGCAATCTGGATCTGAACCTTTGGTTTTATTTAGCTTTCCAGTTCTCAGGGAACAATAGAAACCAGTCTTCAGGA... | GATTAGAAGTATTTTACATGTGGTTTTAGAAGGGTGTTTACTGAATGAACTGTTTTATAAGATGTATTACTGCTGGTCTCATGTTTTATTATCATACTGTACCCCTGGTGGAAATCAACCTAAGAAACTCTTTTGTATTTAAAAATGGAAATAATTACTGTGCCTTTGAATTGAAGTAATCTACAAAAGAAATGTGGTCCAGACTTTAGACTTTGTTGGGACTGTGATGATCATTTCTGGCTTTTGGCAATCTGGATCTGAACCTTTGGTTTTATTTAGCTTTCCAGTTCTCAGGGAACAATAGAAACCAGTCTTCAGGA... | benign | 199,413 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 64497621, gene TBK1 (TANK binding kinase 1). What disease(s) is it linked to if pathogenic? | benign | CATCAAGAAGGCACTCATCCGAAAGACAGAAAGTAGGTTATAGCTTTATGCGTAGTTTCTGCTCTTATTAATGTCCTTTTTCACATTGACTCAGTTAATTTATTTGAGTTTTTCTTCCTTAAATAGTGTAGAAAAACTACAAGTCCTGTTAAATTGCATGACAGAGATTTACTATCAGTTCAAAAAAGACAAAGCAGAACGTAGTAAGTAAAATTTGCTATTTGTTAATTTAATAAATCCCTCTTAGTAATTAGTTATAATTCAGTTAAATTAATTTGGTATATCTGTAAGGGTAGCTTCTTAAGCTGTTTTTTTCAGAG... | CATCAAGAAGGCACTCATCCGAAAGACAGAAAGTAGGTTATAGCTTTATGCGTAGTTTCTGCTCTTATTAATGTCCTTTTTCACATTGACTCAGTTAATTTATTTGAGTTTTTCTTCCTTAAATAGTGTAGAAAAACTACAAGTCCTGTTAAATTGCATGACAGAGATTTACTATCAGTTCAAAAAAGACAAAGCAGAACGTAGTAAGTAAAATTTGCTATTTGTTAATTTAATAAATCCCTCTTAGTAATTAGTTATAATTCAGTTAAATTAATTTGGTATATCTGTAAGGGTAGCTTCTTAAGCTGTTTTTTTCAGAG... | benign | 199,414 |
The mutation impacting GNS (glucosamine (N-acetyl)-6-sulfatase) on chromosome 12 at position 64723082: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-D'] | AGATGGTCAGATGAGGGTTGCCAGATGGGGCAGGTGAGCATATGCTGATAAACAGTAAGAAACCACAAGGGACTAGAGTCCATGGGATCCTTCAGATAATCCATACCAACCTGTGTTGGCCAAAAACCACCTTCTTCCATGGATGGACTCCTGGGCCTCTGACCCCCACTCTAATCTATTACAGCAGCATTGGATTATGCTGTGGTGGGAACAGGAGTTTCCGAATACACCAGGTGCTGGTAAGCTTTCTAGAAAATGCTCCAACCAATCTACCAGGGAAGCTAACAGACAAAGCATTTATCATTCTGAAAACGTGAATT... | AGATGGTCAGATGAGGGTTGCCAGATGGGGCAGGTGAGCATATGCTGATAAACAGTAAGAAACCACAAGGGACTAGAGTCCATGGGATCCTTCAGATAATCCATACCAACCTGTGTTGGCCAAAAACCACCTTCTTCCATGGATGGACTCCTGGGCCTCTGACCCCCACTCTAATCTATTACAGCAGCATTGGATTATGCTGTGGTGGGAACAGGAGTTTCCGAATACACCAGGTGCTGGTAAGCTTTCTAGAAAATGCTCCAACCAATCTACCAGGGAAGCTAACAGACAAAGCATTTATCATTCTGAAAACGTGAATT... | pathogenic | 199,435 |
Chromosome 12, position 64747815, gene GNS (glucosamine (N-acetyl)-6-sulfatase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-D'] | ATGACCAGACCAGAAAGAAACAGGAAATTTTACAATCTTTTTAGACCAGTGCCTGAAACATAGTAGGTACCTAATTTCCCCAAATAGACACTAGTCAAAAATAAACGCTAATAATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACA... | ATGACCAGACCAGAAAGAAACAGGAAATTTTACAATCTTTTTAGACCAGTGCCTGAAACATAGTAGGTACCTAATTTCCCCAAATAGACACTAGTCAAAAATAAACGCTAATAATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACA... | pathogenic | 199,454 |
Located at chromosome 12 position 64747912, the variant affecting gene GNS (glucosamine (N-acetyl)-6-sulfatase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-D'] | AAAATAAACGCTAATAATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACATTCATTTACATAGTGCAGTGTCTGTGGCTGCTTTCACGCTACAGTGGCAGAGCTGAATAGTAGCAACAGAGACATATGGCCTGCAAGGCCTGAAATG... | AAAATAAACGCTAATAATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACATTCATTTACATAGTGCAGTGTCTGTGGCTGCTTTCACGCTACAGTGGCAGAGCTGAATAGTAGCAACAGAGACATATGGCCTGCAAGGCCTGAAATG... | pathogenic | 199,455 |
Variant in gene GNS (glucosamine (N-acetyl)-6-sulfatase), located at chromosome 12 position 64747927: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACATTCATTTACATAGTGCAGTGTCTGTGGCTGCTTTCACGCTACAGTGGCAGAGCTGAATAGTAGCAACAGAGACATATGGCCTGCAAGGCCTGAAATGTTTACTATCTGACCC... | AATCCTAGGAACTTCTAAAGCAGGAGTTGGCAAACTACAGCCAGTGAGCCAAATCTGGCCTGATGACTTTTGTATGAACAGCAAGCTAAGAATTTAACAATTTTAAAATATAAAAGTTAATCAAAATAAGAATATTTTGTGAAATGTGACAATTACATAAAATTCAAATTTTAACAGCGATAAAGAGTTTTATTGGAACACAGCCACATTCATTTACATAGTGCAGTGTCTGTGGCTGCTTTCACGCTACAGTGGCAGAGCTGAATAGTAGCAACAGAGACATATGGCCTGCAAGGCCTGAAATGTTTACTATCTGACCC... | benign | 199,456 |
A genetic variant at chromosome 12, position 66445515, affecting gene GRIP1 (glutamate receptor interacting protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGGAGTTTTGCTCTTGTTGCCCAGATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCTGGCCTCAACCTCCCAAGTAGCTGGGACTATAGGTGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCATCAAGTTGGCCAGGCTAGTCTCGAACTCCTGATCTCAGGTGATCCACCTACCTCAGCCTCCCAAAATGCTGGGATTAAAGGCATGAGGTACCATGCCTGGCCTACTGCAATATTCTTGACCCCCTACTGCAGT... | TGGAGTTTTGCTCTTGTTGCCCAGATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCTGGCCTCAACCTCCCAAGTAGCTGGGACTATAGGTGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGATTTCATCAAGTTGGCCAGGCTAGTCTCGAACTCCTGATCTCAGGTGATCCACCTACCTCAGCCTCCCAAAATGCTGGGATTAAAGGCATGAGGTACCATGCCTGGCCTACTGCAATATTCTTGACCCCCTACTGCAGT... | benign | 199,561 |
Is the variant located on chromosome 12 at position 66455565, gene GRIP1 (glutamate receptor interacting protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fraser_syndrome_3'] | GAGAGCACTGTCAAGAGATTTTCTCATGTGACAATTCATATTTAGGCCGATGACAGTTAACACAAACTATTCAAAATAGCTAACAATTAAATTGTGCTTACTATTTACCAGGTGTTGTTCTAAACACATATACACATGCAATCTCATGTAATCTCAATTACCCAATGAAGTAATTCTTCCTATTTTCAGTCAAGGCATACCTCATGCAGTCTTCACAATTACCCAATGAAGTGATTTTCCCTATTTTCAGTTGAGGCATAGAGAGTTTACAGAAGTTGCTCAGGGTCCTACAGCTAGAAGGTAATGATGCTGGGATGGAA... | GAGAGCACTGTCAAGAGATTTTCTCATGTGACAATTCATATTTAGGCCGATGACAGTTAACACAAACTATTCAAAATAGCTAACAATTAAATTGTGCTTACTATTTACCAGGTGTTGTTCTAAACACATATACACATGCAATCTCATGTAATCTCAATTACCCAATGAAGTAATTCTTCCTATTTTCAGTCAAGGCATACCTCATGCAGTCTTCACAATTACCCAATGAAGTGATTTTCCCTATTTTCAGTTGAGGCATAGAGAGTTTACAGAAGTTGCTCAGGGTCCTACAGCTAGAAGGTAATGATGCTGGGATGGAA... | pathogenic | 199,563 |
Located at chromosome 12 position 68158261, the variant affecting gene IFNG (interferon gamma)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTTTAAAATAAACACCCCCAATCATATTTATATATGGCTTACTGATATATAAAGTTTAAAATTAAGAATTGCAACAACTTTTCCAGTACCCTGCCTTCTAGGCAAGCAAATTGAACTACTTGCATCTCCTCACTCTAACCAATAGGGCCATTTAGATGATGCTTCATAAAATGTGGACCATTTACCTTCCTCTTGGCTCTGCCATTACATTTTTTCTAATCTTGGGAACACTATGGCTACTCACCACATTTCTGAGGATGGCTGGGGGATTACAGCTAAAGACTAATTGTCAAAGGGCATAACATGCATAAAATAGCTTA... | TTTTAAAATAAACACCCCCAATCATATTTATATATGGCTTACTGATATATAAAGTTTAAAATTAAGAATTGCAACAACTTTTCCAGTACCCTGCCTTCTAGGCAAGCAAATTGAACTACTTGCATCTCCTCACTCTAACCAATAGGGCCATTTAGATGATGCTTCATAAAATGTGGACCATTTACCTTCCTCTTGGCTCTGCCATTACATTTTTTCTAATCTTGGGAACACTATGGCTACTCACCACATTTCTGAGGATGGCTGGGGGATTACAGCTAAAGACTAATTGTCAAAGGGCATAACATGCATAAAATAGCTTA... | benign | 199,577 |
Classify the chromosome 12 variant at position 68696793 affecting gene NUP107 (nucleoporin 107) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TACAAAATTAGCTGGGCATGGTGGCGAATGCCTGTAATCGCAGCTACTCGGGAGACTGAGGCAGGAGACTCGCTTGAGCCCGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACCTCCATCCTGGGCAACAAGAGCGAAACTTCATCTCAAAAAAGAAAGAGAGAAAGAAAGAAATAGAATAGACACTGTTCTAAAGAAGATTCACAAATGACCAGTAAGCACATGAAAATATACTCAAATGTCACTAATCATTAGGAAAATCCAAATCAGAACTACAGTGAGTTACAAGATACTGCCTTACACCCGTTAG... | TACAAAATTAGCTGGGCATGGTGGCGAATGCCTGTAATCGCAGCTACTCGGGAGACTGAGGCAGGAGACTCGCTTGAGCCCGGGAGGCAGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACCTCCATCCTGGGCAACAAGAGCGAAACTTCATCTCAAAAAAGAAAGAGAGAAAGAAAGAAATAGAATAGACACTGTTCTAAAGAAGATTCACAAATGACCAGTAAGCACATGAAAATATACTCAAATGTCACTAATCATTAGGAAAATCCAAATCAGAACTACAGTGAGTTACAAGATACTGCCTTACACCCGTTAG... | benign | 199,600 |
Variant chromosome 12, position 68713767, gene NUP107 (nucleoporin 107): benign or pathogenic? Disease(s)? | benign | AAGTGTTTGCACAAAGAAGCCAGTGGGAACACAGCAAGGAAAAGAATGGTAGAAAACAAGACTGGAGGAAGCCAGATATAGGGCTTTTACAGGCAGACAAATGTAACTATTCTGGACTTTATTCTAAATGTGATGGGAAACCTTGAGAATAGAAGAATGACATGGTCCAATTTATGTTTTCAAACAATCACCTGCCTGCTTTTTTCTTAATAAGATTATTGATCATATCAGAAGATGATCTTCTGATTGTCAAGAAGACACTTCTGTCCTGTTTTCAGCTACTTGTGTGGGTTTGTTTTGTTTTGTCTTGCTTTTGCTTA... | AAGTGTTTGCACAAAGAAGCCAGTGGGAACACAGCAAGGAAAAGAATGGTAGAAAACAAGACTGGAGGAAGCCAGATATAGGGCTTTTACAGGCAGACAAATGTAACTATTCTGGACTTTATTCTAAATGTGATGGGAAACCTTGAGAATAGAAGAATGACATGGTCCAATTTATGTTTTCAAACAATCACCTGCCTGCTTTTTTCTTAATAAGATTATTGATCATATCAGAAGATGATCTTCTGATTGTCAAGAAGACACTTCTGTCCTGTTTTCAGCTACTTGTGTGGGTTTGTTTTGTTTTGTCTTGCTTTTGCTTA... | benign | 199,609 |
Clinical significance of chromosome 12, position 68719444, gene NUP107 (nucleoporin 107): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAGCAATTTGAGATAAAATTTACATACCATGTAATTCACCCATTTCAAGTGACACCATTCAATGGTTTTGGTATATTACATTATTGATTTTGTGAATCGTATAATATATATTATTATATTATATAACAAAATGTGCCATTTTAATCATTTAAGTGTGCACTTCATGGCATTCATTACATTAACAGTATTGGGAAACCATCACCACTGTCTGTTTCTAAAACTTTTTCATCAACCCAAATACAAACTGTAACCATTATATGCAGTAACGCCTCATTCTCTTCTTCCCTCAGCCCCTGTAACCTCTAATCTACTTACTGTCT... | TAGCAATTTGAGATAAAATTTACATACCATGTAATTCACCCATTTCAAGTGACACCATTCAATGGTTTTGGTATATTACATTATTGATTTTGTGAATCGTATAATATATATTATTATATTATATAACAAAATGTGCCATTTTAATCATTTAAGTGTGCACTTCATGGCATTCATTACATTAACAGTATTGGGAAACCATCACCACTGTCTGTTTCTAAAACTTTTTCATCAACCCAAATACAAACTGTAACCATTATATGCAGTAACGCCTCATTCTCTTCTTCCCTCAGCCCCTGTAACCTCTAATCTACTTACTGTCT... | benign | 199,616 |
The chromosome 12, position 68731733 genetic variant in gene NUP107 (nucleoporin 107): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAGCAGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGGCCTACCTAGCTTTTTCTTAATTTACTCAGTATTTCTAGGCTATTAATTTGTTTGTGAGTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGTACTGTACCCTCTGCCTCTTGGGTTCAAGCATGAATATTTTTCAAATTGTCACAAATCTCCAAAAAATGTTCTAATATATATATATTTAAATTAATGTATTTATTTATTTAGAGATAGGATGTTGTTCTGTCACTC... | CAGCAGCCTCGGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGGCCTACCTAGCTTTTTCTTAATTTACTCAGTATTTCTAGGCTATTAATTTGTTTGTGAGTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGTACTGTACCCTCTGCCTCTTGGGTTCAAGCATGAATATTTTTCAAATTGTCACAAATCTCCAAAAAATGTTCTAATATATATATATTTAAATTAATGTATTTATTTATTTAGAGATAGGATGTTGTTCTGTCACTC... | benign | 199,627 |
Mutation found at chromosome 12 position 76345844, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | ATCTTGATTTTGATTTTAACTGGCCTTTACATTTTCCTTGGTCTTGATTCTTTAATTTTCATTCAGATTTTACTGTAATTTTGTCTGTTCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCT... | ATCTTGATTTTGATTTTAACTGGCCTTTACATTTTCCTTGGTCTTGATTCTTTAATTTTCATTCAGATTTTACTGTAATTTTGTCTGTTCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCT... | pathogenic | 199,729 |
Gene BBS10 (Bardet-Biedl syndrome 10) variant at chromosome 12, position 76345864—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10', 'Retinal_dystrophy'] | TGGCCTTTACATTTTCCTTGGTCTTGATTCTTTAATTTTCATTCAGATTTTACTGTAATTTTGTCTGTTCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCT... | TGGCCTTTACATTTTCCTTGGTCTTGATTCTTTAATTTTCATTCAGATTTTACTGTAATTTTGTCTGTTCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCT... | pathogenic | 199,730 |
The chromosome 12, position 76345932 genetic variant in gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGA... | TCCTTTTCTTGGGTGGGGATGGTCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGA... | pathogenic | 199,731 |
Variant on chromosome 12, at position 76345954, affecting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGC... | TCTGTTCTTATTGCAGGTCACTTCACATCCTTTGTGGTAGAGGGTATAAGTATAATGTAATTACATTTTTAAAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGC... | pathogenic | 199,732 |
The mutation in gene BBS10 (Bardet-Biedl syndrome 10) at chromosome 12, position 76346025—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTC... | AAAGTGCTTTCCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTC... | pathogenic | 199,733 |
Does the variant impacting BBS10 (Bardet-Biedl syndrome 10) on chromosome 12, position 76346035, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | CCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTC... | CCTATCTAACTCAGTGATGTAAACTCTCTAGTGTTATTCTGTAAATAAGGATAAATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTC... | pathogenic | 199,735 |
Chromosome 12, position 76346088, gene BBS10 (Bardet-Biedl syndrome 10): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCA... | AATCCATGAAAGTTTTACCACCATTTTTGAGGGGTTTCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCA... | pathogenic | 199,737 |
Variant in BBS10 (Bardet-Biedl syndrome 10), chromosome 12, position 76346124—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome_10'] | TCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGG... | TCTTTTAATGAAAAGGAAAAGGATTACTTTGTGTAGATCTGTTCTACACTTTCTGCTCCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGG... | pathogenic | 199,739 |
Evaluate the clinical significance of the mutation at chromosome 12, position 76346260 in gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTC... | TTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTC... | pathogenic | 199,742 |
Variant in gene BBS10 (Bardet-Biedl syndrome 10), located at chromosome 12 position 76346283: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATA... | GCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATA... | pathogenic | 199,743 |
Benign or pathogenic: chromosome 12, position 76346307, gene BBS10 (Bardet-Biedl syndrome 10) variant? Disease(s) if pathogenic? | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10', 'Retinal_dystrophy'] | GACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTT... | GACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTT... | pathogenic | 199,745 |
A genetic variant at chromosome 12, position 76346308, affecting gene BBS10 (Bardet-Biedl syndrome 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | ACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTA... | ACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTA... | pathogenic | 199,747 |
Regarding the variant found on chromosome 12 at position 76346316 in gene BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | CCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCA... | CCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCA... | pathogenic | 199,750 |
Located at chromosome 12 position 76346361, the variant affecting gene BBS10 (Bardet-Biedl syndrome 10)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAA... | TAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAA... | pathogenic | 199,754 |
Variant chromosome 12, position 76346378, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome'] | AAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTT... | AAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTT... | pathogenic | 199,755 |
A genetic variant at chromosome 12, position 76346382, affecting gene BBS10 (Bardet-Biedl syndrome 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTC... | GCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTC... | pathogenic | 199,756 |
Variant in BBS10 (Bardet-Biedl syndrome 10), chromosome 12, position 76346442—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTA... | GGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTA... | pathogenic | 199,758 |
Is chromosome 12, position 76346473, gene BBS10 (Bardet-Biedl syndrome 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATT... | AGTGACCAAATGACCTGAAAGGCAATTAAAAAAAAAATGAAAAAAATTATGCAGCAGTTTTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATT... | pathogenic | 199,759 |
For chromosome 12, position 76346532, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACT... | TTAAAGTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACT... | pathogenic | 199,761 |
A genetic variant on chromosome 12, position 76346537, affects the gene BBS10 (Bardet-Biedl syndrome 10). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTT... | GTTCATTCATCCATGAATTCAGCAAAAGAGCTAATTTATTCTCTCCATATTCACAGAAACAAAATAATGCATCATATAGCATAAATGTTTAAAAAATCAGAATTACATTTAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTT... | pathogenic | 199,762 |
Variant on chromosome 12, at position 76346646, affecting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | TAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGA... | TAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGA... | pathogenic | 199,765 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 76346646, gene BBS10 (Bardet-Biedl syndrome 10): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGA... | TAATATAAAAAATTTTGATATTATAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGA... | pathogenic | 199,766 |
Chromosome 12, position 76346669, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAA... | TAGTTTTTAAAATACATTAGTCAACACTTATTCAACTATAATTAAAGTTTTTTTTCTTCAGTCAATCCCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAA... | pathogenic | 199,767 |
Is the variant located on chromosome 12 at position 76346736, gene BBS10 (Bardet-Biedl syndrome 10), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | CCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCT... | CCAAGTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCT... | pathogenic | 199,769 |
Located at chromosome 12 position 76346740, the variant affecting gene BBS10 (Bardet-Biedl syndrome 10)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGC... | GTAAGAATCTGTTGAATAAGTAAACTGGAAACATGTATTTAAAGGAATGAATTAAAGATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGC... | pathogenic | 199,771 |
Evaluate this variant at chromosome 12, position 76346796, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGT... | GATAACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGT... | pathogenic | 199,774 |
Regarding the variant at chromosome 12 and position 76346800, affecting gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | ACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGG... | ACACTGTTTTGTTCAACAAGCACTTCTGAATACTTGGAGTAAATACAGCACTGTTTTGGGTATTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGG... | pathogenic | 199,775 |
Clinically, how would you classify the variant at chromosome 12, position 76346862, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAA... | TTACAGAGAACTGATAAAGGTAGAAAACACTGTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAA... | pathogenic | 199,778 |
Mutation at chromosome 12, position 76346893, within BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Bardet-Biedl_syndrome_10'] | GTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTA... | GTCCTTGTCCATGATAAGATGCATCATATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTA... | pathogenic | 199,779 |
Located at chromosome 12 position 76346920, the variant affecting gene BBS10 (Bardet-Biedl syndrome 10)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | ATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGT... | ATTATTTACATTGACAAGTTTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGT... | pathogenic | 199,781 |
Chromosome 12, position 76346939, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTT... | TTTTAAAATATGAACATTTGTAAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTT... | pathogenic | 199,783 |
Classify the chromosome 12 variant at position 76346960 affecting gene BBS10 (Bardet-Biedl syndrome 10) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAAC... | AAATGAAATAAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAAC... | pathogenic | 199,784 |
A genetic variant at chromosome 12, position 76346984, affecting gene BBS10 (Bardet-Biedl syndrome 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | ATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAAT... | ATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAAT... | pathogenic | 199,785 |
Is the variant located on chromosome 12 at position 76347022, gene BBS10 (Bardet-Biedl syndrome 10), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTA... | TTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTA... | pathogenic | 199,788 |
The genetic variant at chromosome 12, position 76347072, affecting gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10', 'Bardet-biedl_syndrome_1/10,_digenic'] | AAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTT... | AAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTT... | pathogenic | 199,792 |
Clinical significance of chromosome 12, position 76347125, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_10'] | ATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTC... | ATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTC... | pathogenic | 199,794 |
Variant in BBS10 (Bardet-Biedl syndrome 10), chromosome 12, position 76347139—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome_10'] | TGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAA... | TGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAA... | pathogenic | 199,796 |
Assess the variant on chromosome 12, position 76347179, impacting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTA... | AAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTA... | pathogenic | 199,797 |
Is the genetic variant on chromosome 12, position 76347179, gene BBS10 (Bardet-Biedl syndrome 10), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTA... | AAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTA... | pathogenic | 199,798 |
The chromosome 12, position 76347199 genetic variant in gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | TTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGAT... | TTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGAT... | pathogenic | 199,800 |
Chromosome 12, position 76347247, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTAT... | TATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTAT... | pathogenic | 199,802 |
Mutation at chromosome 12, position 76347253, within BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAA... | AGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAA... | pathogenic | 199,803 |
Gene mutation in BBS10 (Bardet-Biedl syndrome 10) at chromosome 12, position 76347297—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACA... | TAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACA... | pathogenic | 199,804 |
Chromosome 12, position 76347338, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAAT... | TTTACTCACTGCTAATTTAATTTTATGCTTTTTGAAAAAAATAATTTGAGCCTTTTACTCAGCTTTACAAAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAAT... | pathogenic | 199,807 |
Evaluate if the mutation on chromosome 12 at position 76347413 in BBS10 (Bardet-Biedl syndrome 10) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTC... | GAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTC... | pathogenic | 199,812 |
Assess the variant on chromosome 12, position 76347495, impacting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACT... | TCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACT... | pathogenic | 199,815 |
Gene mutation in BBS10 (Bardet-Biedl syndrome 10) at chromosome 12, position 76347517—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | ATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGT... | ATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGT... | pathogenic | 199,818 |
Evaluate this variant at chromosome 12, position 76347593, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTA... | AGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTA... | pathogenic | 199,822 |
Evaluate this variant at chromosome 12, position 76347619, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | GGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAA... | GGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAA... | pathogenic | 199,823 |
Gene mutation in BBS10 (Bardet-Biedl syndrome 10) at chromosome 12, position 76347673—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTAC... | AGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTAC... | pathogenic | 199,825 |
Variant at chromosome 12, position 76347675, gene BBS10 (Bardet-Biedl syndrome 10): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | ATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTG... | ATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTG... | pathogenic | 199,826 |
Located at chromosome 12 position 76347713, the variant affecting gene BBS10 (Bardet-Biedl syndrome 10)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['BBS10-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Bardet-Biedl_syndrome_10', 'Bardet-biedl_syndrome_6/10,_digenic', 'Inborn_genetic_diseases', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | TGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTG... | TGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTG... | pathogenic | 199,828 |
Benign or pathogenic: chromosome 12, position 76347731, gene BBS10 (Bardet-Biedl syndrome 10) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACA... | TCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACA... | pathogenic | 199,829 |
The mutation in gene BBS10 (Bardet-Biedl syndrome 10) at chromosome 12, position 76347749—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10', 'Retinal_dystrophy'] | AGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGT... | AGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGT... | pathogenic | 199,830 |
Mutation found at chromosome 12 position 76347749, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | AGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGT... | AGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGT... | pathogenic | 199,831 |
Does the variant impacting BBS10 (Bardet-Biedl syndrome 10) on chromosome 12, position 76347769, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_10'] | TAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGT... | TAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGT... | pathogenic | 199,832 |
Does the variant on chromosome 12 at location 76347769 affecting gene BBS10 (Bardet-Biedl syndrome 10) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_10'] | TAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGT... | TAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGT... | pathogenic | 199,833 |
Chromosome 12, position 76348178, gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | TGGCATAATTGAGAAGATAGTAATGTAACAAGATCTCAAAATTACCACCTACTGGCAAAACACAACCAGCTGGCATAGATGAGGAAAGGTAACTCTGGGAAGTACCCATATTCGGTAACTTACAGCTCACTGGTAACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGT... | TGGCATAATTGAGAAGATAGTAATGTAACAAGATCTCAAAATTACCACCTACTGGCAAAACACAACCAGCTGGCATAGATGAGGAAAGGTAACTCTGGGAAGTACCCATATTCGGTAACTTACAGCTCACTGGTAACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGT... | pathogenic | 199,837 |
Assess the variant on chromosome 12, position 76348188, impacting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome_10'] | GAGAAGATAGTAATGTAACAAGATCTCAAAATTACCACCTACTGGCAAAACACAACCAGCTGGCATAGATGAGGAAAGGTAACTCTGGGAAGTACCCATATTCGGTAACTTACAGCTCACTGGTAACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGG... | GAGAAGATAGTAATGTAACAAGATCTCAAAATTACCACCTACTGGCAAAACACAACCAGCTGGCATAGATGAGGAAAGGTAACTCTGGGAAGTACCCATATTCGGTAACTTACAGCTCACTGGTAACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGG... | pathogenic | 199,838 |
Determine if the mutation at chromosome 12, position 76348312 in gene BBS10 (Bardet-Biedl syndrome 10) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10', 'Inborn_genetic_diseases'] | AACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGG... | AACATGCTTCCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGG... | pathogenic | 199,846 |
Assess the variant on chromosome 12, position 76348321, impacting BBS10 (Bardet-Biedl syndrome 10): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | CCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTAT... | CCCTTTCTAGTAATATTTGTGACCTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTAT... | pathogenic | 199,847 |
The genetic variant at chromosome 12, position 76348344, affecting gene BBS10 (Bardet-Biedl syndrome 10): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_10'] | CTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTATTGAGCCATTACCAGGATCTGGTG... | CTGTAAATTTTCGTAAGAAATTTCTATTCTATTTCCCCTTGTTGAATAAGCAGTGGAATTGTTCTTGAGTAATGGTTCATAATAATCAGTTAGCCTGTTTCTTTCCAAAGACAAACATGTCAGCGTTTCAACTGTTTGGAATGTATCTGTTGGTGTCAGTGTGGGGGTTGAATACGGAATATATGTTTCTAATTCTACATCTGGAATTACCAAATTAGAATGTACTTTTAAATATGTTTGAGTTTTTTCCAATGCATCTTTGTTCTCTGCAACTGTGTCCTGATAAGGCCTTTGTATTGAGCCATTACCAGGATCTGGTG... | pathogenic | 199,849 |
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