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 |
|---|---|---|---|---|---|
Gene mutation in NBN (nibrin) at chromosome 8, position 89970417—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAA... | AGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAA... | pathogenic | 137,031 |
Is the variant located on chromosome 8 at position 89970442, gene NBN (nibrin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGC... | AAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGC... | pathogenic | 137,037 |
Is the genetic variant on chromosome 8, position 89970450, gene NBN (nibrin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCC... | GGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCC... | pathogenic | 137,040 |
The mutation in gene NBN (nibrin) at chromosome 8, position 89970459—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | AATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGG... | AATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGG... | pathogenic | 137,043 |
Evaluate this variant at chromosome 8, position 89970465, gene NBN (nibrin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACT... | ACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACT... | pathogenic | 137,046 |
Variant chromosome 8, position 89970517, gene NBN (nibrin): benign or pathogenic? Disease(s)? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTC... | AACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTC... | pathogenic | 137,055 |
Located at chromosome 8 position 89970517, the variant affecting gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTC... | AACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTC... | pathogenic | 137,056 |
Clinical significance of chromosome 8, position 89970522, gene NBN (nibrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | CCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTCTGCCT... | CCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGCCTAAAAGAGGCCTTCTCTGTTTAGAATAAGCTTCTTCCCCACTGCCGGGTTACTGCTTCCTTTATATACATGTGTAATGATTTGTTTACTTGTCTTTCTCTGTCTCTGCCT... | pathogenic | 137,059 |
Chromosome 8, position 89971170, gene NBN (nibrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACACTTTAGTCCTCACCTACTTTTTGCCACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTT... | ACACTTTAGTCCTCACCTACTTTTTGCCACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTT... | pathogenic | 137,072 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 89971173, gene NBN (nibrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'NBN-related_disorder'] | CTTTAGTCCTCACCTACTTTTTGCCACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACC... | CTTTAGTCCTCACCTACTTTTTGCCACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACC... | pathogenic | 137,077 |
Regarding the variant at chromosome 8 and position 89971198, affecting gene NBN (nibrin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGC... | ACATGAAGAGCAATTTAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGC... | pathogenic | 137,081 |
Determine whether the variant at chromosome 8, position 89971213, in gene NBN (nibrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Breast_carcinoma', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hepatocellular_carcinoma', 'Hereditary_cancer-predisposing_syndrome',... | TAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAA... | TAGTCAGAAGACTGCCAAGCCATATATTTCTACAATACTTACTGGCTTCAACAATGCTAAGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAA... | pathogenic | 137,084 |
Does the chromosome 8 mutation at position 89971272 within gene NBN (nibrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTA... | AGATTATTAATGCAAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTA... | pathogenic | 137,096 |
For chromosome 8, position 89971285, gene NBN (nibrin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATA... | AAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATA... | pathogenic | 137,097 |
Clinically, how would you classify the variant at chromosome 8, position 89971285, gene NBN (nibrin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATA... | AAATTAAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATA... | pathogenic | 137,098 |
Does the genetic variant at chromosome 8, position 89971290, impacting gene NBN (nibrin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATAAAATA... | AAAGTCTAAGAAAAATCCTTCAGTTAGCTCTTTTACAGTCTCCCTCCACTCTACAAACATCATTTCAACCTATCTGACTTTTTGTCTGCTTTCCCATAATAGCCTATATAAGGATAGGAATGTTTATATGTCTTTCTAATGGGTAATAACCATCAAAGGGCAAATACATTTCAACGCTAGGCAATTGCAGAAAACCTTTTACCGTTGAGTTTTAAGTTTCTCAAATGCAACATATTCTGTAAAAAAACTTAACACTACTTTGTTAATTTACAGAGGTAAATTCTACAAATTCTATTAAAGTAACAAAAAAGCATAAAATA... | pathogenic | 137,100 |
Benign or pathogenic: chromosome 8, position 89978267, gene NBN (nibrin) variant? Disease(s) if pathogenic? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CTACCTTGGCATCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCAGGGCTGGCCTGCTTTCATATTTGCAGGAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCA... | CTACCTTGGCATCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCAGGGCTGGCCTGCTTTCATATTTGCAGGAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCA... | pathogenic | 137,119 |
A genetic alteration at chromosome 8, position 89978311, in gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CAGGGCTGGCCTGCTTTCATATTTGCAGGAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCACAAGTGTGTTGACTCAAAGCCTTTGCCATTATATCTATACTGAA... | CAGGGCTGGCCTGCTTTCATATTTGCAGGAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCACAAGTGTGTTGACTCAAAGCCTTTGCCATTATATCTATACTGAA... | pathogenic | 137,131 |
Mutation at chromosome 8, position 89978339, within NBN (nibrin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCACAAGTGTGTTGACTCAAAGCCTTTGCCATTATATCTATACTGAATAAATGACCACAGCAACAGCTAGTCGGG... | GAGTTCAGTCAGGGTGGTGGGAAAAAATGTAGAAAGATGCAAACCTTGGAAGGCCAAAAGGTTTTACATCAGTTTCGGAACAGGATTTGGCTGAAAGCAGCCAGATTCTTTTATACGGTGCCTGAAAGCTTAGGTTAGATAACGGGATGTTAAGAAACTGATCTAGATAAGTTACTTAGCTCGGAACCTGGCCTTTAATCATTCGTAGGACTGCTCTCTCCTGGGAGGGGAACCATGTTAATTATCCACAAGTGTGTTGACTCAAAGCCTTTGCCATTATATCTATACTGAATAAATGACCACAGCAACAGCTAGTCGGG... | benign | 137,137 |
A genetic alteration at chromosome 8, position 89980739, in gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTAACATATCTGCTTCAGGGAAGACAATATTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGC... | GTAACATATCTGCTTCAGGGAAGACAATATTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGC... | pathogenic | 137,140 |
Variant on chromosome 8, at position 89980745, affecting NBN (nibrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TATCTGCTTCAGGGAAGACAATATTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTT... | TATCTGCTTCAGGGAAGACAATATTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTT... | pathogenic | 137,142 |
Clinical significance of chromosome 8, position 89980768, gene NBN (nibrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCG... | TTAGGAGATGAACATGAGCTATTTTTAGACTAATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCG... | pathogenic | 137,149 |
A genetic variant on chromosome 8, position 89980799, affects the gene NBN (nibrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome'] | AATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCT... | AATTGTCTTTCAAAAAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCT... | pathogenic | 137,157 |
Assess the variant on chromosome 8, position 89980813, impacting NBN (nibrin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATC... | AAGATTGTAACTATGCAATAAAGCCTTTTTGAGAAAGTAAATAAAATAATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATC... | pathogenic | 137,160 |
Does the variant on chromosome 8 at location 89980860 affecting gene NBN (nibrin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCAC... | AATTTTTGGTAAAAGCACAAAATAAGTACATATAAAGTGGAAAAAAAGAAACTTAAACTCACATGTGAATTAAGCTATAAGCCTCAAATATGATACATCCAAAAAATATGACAAACATTAGAAAATGCTACAGTGGGCAATGAAAATAAGATTCAGAATAATATAAATATGCTTTTTTATTTTTGAGACAGGGTCTCGCTCTGTTGTCCAGGCTGGACTGCAGTGGCGTGATCCTGGTTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCAC... | pathogenic | 137,172 |
Does the genetic variant at chromosome 8, position 89981377, impacting gene NBN (nibrin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGCAGATTTAGATTGTCTCTCAAGAATGGAACCTGAAAGATACCACTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAAT... | AGCAGATTTAGATTGTCTCTCAAGAATGGAACCTGAAAGATACCACTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAAT... | pathogenic | 137,180 |
Located at chromosome 8 position 89981388, the variant affecting gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATTGTCTCTCAAGAATGGAACCTGAAAGATACCACTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAA... | ATTGTCTCTCAAGAATGGAACCTGAAAGATACCACTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAA... | pathogenic | 137,182 |
Clinical classification of chromosome 8, position 89981422, gene NBN (nibrin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCAT... | CTTTCCAATGTGAAAGAAATAAACTAGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCAT... | pathogenic | 137,189 |
Assess the variant on chromosome 8, position 89981447, impacting NBN (nibrin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAA... | AGCATGAACCAGTAATGTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAA... | pathogenic | 137,194 |
Variant at chromosome 8, position 89981463, gene NBN (nibrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAA... | GTGCAAATCAACACTGTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAA... | pathogenic | 137,196 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 89981478, gene NBN (nibrin): what disease(s) if pathogenic? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTG... | GTATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTG... | pathogenic | 137,201 |
Clinically, how would you classify the variant at chromosome 8, position 89981479, gene NBN (nibrin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | TATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGT... | TATTGGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGT... | pathogenic | 137,202 |
The mutation impacting NBN (nibrin) on chromosome 8 at position 89981483: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATG... | GGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATG... | pathogenic | 137,203 |
Is the genetic mutation found on chromosome 8 at position 89981483, within the gene NBN (nibrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATG... | GGGTAAACTCTAATACATGTGACTTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATG... | pathogenic | 137,204 |
Located at chromosome 8 position 89981506, the variant affecting gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aplastic_anemia', 'Breast_and/or_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATC... | TTGGGAAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATC... | pathogenic | 137,209 |
Variant in gene NBN (nibrin), located at chromosome 8 position 89981511: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATCAGCAT... | AAATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATCAGCAT... | pathogenic | 137,210 |
Chromosome 8, position 89981512, gene NBN (nibrin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATCAGCATC... | AATTAATTGGTCCATGCCTCAGTTTACACTTCAGAAAATAAAAGTTGAACTGAACGCTTTTTTTGTTGTTGTTGTTGTTGTTGTTTTTAAGTAGCTAATAGTAAGAATAAATGGTCTTTAAATTCCTTTTTGGCTCTAACATTCAATGATTTAAAAAATATAAGCTAACTGTACTTTCAGAAAATTTACCAAAAAAAAAAATATAACAACAAGGTTTTCTATTTTGGCATATGAATGACCAGGAATTTTTTTTAACAAATTACTCTGTAAACCACGTTGGTGTGTGTAATGGAGCAATTCACAAGGTGGTCATCAGCATC... | pathogenic | 137,212 |
Is the chromosome 8, position 89982718 variant in NBN (nibrin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TATAGTGGGTAAGCTTAAATTCAAATAACTTATTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTG... | TATAGTGGGTAAGCTTAAATTCAAATAACTTATTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTG... | pathogenic | 137,222 |
Variant at chromosome 8, position 89982735, gene NBN (nibrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'NBN-related_disorder'] | AATTCAAATAACTTATTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATT... | AATTCAAATAACTTATTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATT... | pathogenic | 137,227 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 89982750, gene NBN (nibrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTG... | TTTTTAACATAAGAACAAGACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTG... | pathogenic | 137,232 |
Variant in NBN (nibrin), chromosome 8, position 89982769—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAG... | ACATTCAACCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAG... | pathogenic | 137,235 |
Variant chromosome 8, position 89982777, gene NBN (nibrin): benign or pathogenic? Disease(s)? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCAT... | CCTACTTTAATGGTAACTTTCACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCAT... | pathogenic | 137,240 |
Does the variant impacting NBN (nibrin) on chromosome 8, position 89982798, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aplastic_anemia', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Lymphoma', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'Prostate_cancer_susceptibility'] | ACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGA... | ACTGATACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGA... | pathogenic | 137,244 |
Considering the variant on chromosome 8, location 89982803, involving gene NBN (nibrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | pathogenic | 137,245 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 89982803, gene NBN (nibrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | pathogenic | 137,246 |
The mutation in gene NBN (nibrin) at chromosome 8, position 89982803—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | TACCATGACAAGGTGAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATT... | pathogenic | 137,247 |
Mutation found at chromosome 8 position 89982817, gene NBN (nibrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGT... | GAGTGCATTCTTCTGTCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGT... | pathogenic | 137,248 |
Regarding the variant found on chromosome 8 at position 89982832 in gene NBN (nibrin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGA... | TCCAATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGA... | pathogenic | 137,253 |
Variant in gene NBN (nibrin), located at chromosome 8 position 89982836: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAA... | ATTGTTTACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAA... | pathogenic | 137,255 |
Benign or pathogenic: chromosome 8, position 89982843, gene NBN (nibrin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAA... | ACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAA... | pathogenic | 137,257 |
Clinically, how would you classify the variant at chromosome 8, position 89982843, gene NBN (nibrin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAA... | ACAGTAAATCCTCCAAGTTGCAATATAGCTTGATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAA... | pathogenic | 137,258 |
Evaluate this variant at chromosome 8, position 89982874, gene NBN (nibrin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAATGACCAAAAGTTAACATTATACCTTCACCAA... | GATTTAAAGCAGTTTTCCCAGAGACATCTAAACAAGAAGAGCATGCAACCAAAGGCTCATACTCTATTCTGTAAATGAGAATAAGTTAAATAAAGTCATAGTATCAGAGTTGCAGAGATGGCAATTTTTAGTACTTTAAAACTTTAAGCTCACATCATATACTGTTATTGTAACTTTTATTTATTGTTACCCTTTGTAACCTATGAAATTATCAGTTCCTCATCATTAAGCTTTGTAACCTAGAAAATTATCAAATCCTAAGTCTTGAGTCCAAATGAAGAAAAAACAATGACCAAAAGTTAACATTATACCTTCACCAA... | benign | 137,268 |
Chromosome 8, position 89984514, gene NBN (nibrin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATGTCCTACTTCCTCTGAGTTTCTAACTAAAACAAAGAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTT... | ATGTCCTACTTCCTCTGAGTTTCTAACTAAAACAAAGAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTT... | pathogenic | 137,274 |
Clinical classification of chromosome 8, position 89984538, gene NBN (nibrin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AACTAAAACAAAGAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTC... | AACTAAAACAAAGAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTC... | pathogenic | 137,279 |
Located at chromosome 8 position 89984550, the variant affecting gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTCCTTCCAACAACG... | GAGTAAATTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTCCTTCCAACAACG... | pathogenic | 137,287 |
Clinical significance of chromosome 8, position 89984557, gene NBN (nibrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTCCTTCCAACAACGTACTCAA... | TTACTGAAATAGAAACTTCAAATCTCAAAATGAACAAATACCACTGGTACCACTGCCACAATATAAGTATTTAATTTTGTTAACATTAAAAAAGTCTACACAGCTCTATAAAATGACAAATCCTGTGAACTCTCTCTCACATACAAACCAAGAGAATATTTTGTGATTTCAACCCCCTTACTGGAAACTAGTGAAATAAAATTAGTAACATACCAGGTTGGTTACAGAAAAGTTAGCAGTTAACACAGCATGATTTCGGCTGATCGACTGATCATTTTCAATCAGAATGGCACAGTTTTTCCTTCCAACAACGTACTCAA... | pathogenic | 137,291 |
Does the variant impacting NBN (nibrin) on chromosome 8, position 89984909, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATAAATTTTTTTTTAAAAAAAGATAAGTTGATAGACACATACACATGTACACGAACACACACATACATGTAAGTGTATATGATATAGGTATGACAAATATTAAATAAAACACCTTTGTTATTCAAATGTTAGTCAACTTTACATATGTCAAACTTGTGTTTTCAGTAAAGCCTCACTGAAGGCTATCAAAGGTTATCTAACTATGGTGTTTCAGGAGTAACAACAACAAAATTTAAAATACAATAAAAAAGAGAAAAAGAAAAAAAGGTTATCTAAACAGATAGAAGGCTACATCATTTTTCTAAAGGGAAAGCAATGCT... | ATAAATTTTTTTTTAAAAAAAGATAAGTTGATAGACACATACACATGTACACGAACACACACATACATGTAAGTGTATATGATATAGGTATGACAAATATTAAATAAAACACCTTTGTTATTCAAATGTTAGTCAACTTTACATATGTCAAACTTGTGTTTTCAGTAAAGCCTCACTGAAGGCTATCAAAGGTTATCTAACTATGGTGTTTCAGGAGTAACAACAACAAAATTTAAAATACAATAAAAAAGAGAAAAAGAAAAAAAGGTTATCTAAACAGATAGAAGGCTACATCATTTTTCTAAAGGGAAAGCAATGCT... | benign | 137,295 |
Variant at chromosome position 91071242, chromosome 8, gene OTUD6B (OTU deubiquitinase 6B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Intellectual_developmental_disorder_with_dysmorphic_facies,_seizures,_and_distal_limb_anomalies'] | AGGAGAAAAATCTGAGGTCAGCCTGACTTTTGCCCCTTTGTAAGTAACCTGCTTTCTCTGACTGGATGCTTGTAAAATGTTTCGTCTTTGAAATTCAAAAACGTCACCCGGATATGTCTAGATGCTGCTTTCTTTTCATTAAACTTTAAAGGTATCCTATGAGCCTTTTCCATTTGTAGATCTAGTTCGTTCTTCAATTCTGGAAAATTTTTTCAAGTAGATCCTTTATTGTTTCAGCTCCACTTGCTCTGTCCTCAGTTTCAGGTATTCCTATTATGCATAGATTGTATCTCCTGGACCGGCCCTCTAGATCTCTCTTT... | AGGAGAAAAATCTGAGGTCAGCCTGACTTTTGCCCCTTTGTAAGTAACCTGCTTTCTCTGACTGGATGCTTGTAAAATGTTTCGTCTTTGAAATTCAAAAACGTCACCCGGATATGTCTAGATGCTGCTTTCTTTTCATTAAACTTTAAAGGTATCCTATGAGCCTTTTCCATTTGTAGATCTAGTTCGTTCTTCAATTCTGGAAAATTTTTTCAAGTAGATCCTTTATTGTTTCAGCTCCACTTGCTCTGTCCTCAGTTTCAGGTATTCCTATTATGCATAGATTGTATCTCCTGGACCGGCCCTCTAGATCTCTCTTT... | pathogenic | 137,299 |
The mutation in gene OTUD6B (OTU deubiquitinase 6B) at chromosome 8, position 91071244—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_developmental_disorder_with_dysmorphic_facies,_seizures,_and_distal_limb_anomalies'] | GAGAAAAATCTGAGGTCAGCCTGACTTTTGCCCCTTTGTAAGTAACCTGCTTTCTCTGACTGGATGCTTGTAAAATGTTTCGTCTTTGAAATTCAAAAACGTCACCCGGATATGTCTAGATGCTGCTTTCTTTTCATTAAACTTTAAAGGTATCCTATGAGCCTTTTCCATTTGTAGATCTAGTTCGTTCTTCAATTCTGGAAAATTTTTTCAAGTAGATCCTTTATTGTTTCAGCTCCACTTGCTCTGTCCTCAGTTTCAGGTATTCCTATTATGCATAGATTGTATCTCCTGGACCGGCCCTCTAGATCTCTCTTTTT... | GAGAAAAATCTGAGGTCAGCCTGACTTTTGCCCCTTTGTAAGTAACCTGCTTTCTCTGACTGGATGCTTGTAAAATGTTTCGTCTTTGAAATTCAAAAACGTCACCCGGATATGTCTAGATGCTGCTTTCTTTTCATTAAACTTTAAAGGTATCCTATGAGCCTTTTCCATTTGTAGATCTAGTTCGTTCTTCAATTCTGGAAAATTTTTTCAAGTAGATCCTTTATTGTTTCAGCTCCACTTGCTCTGTCCTCAGTTTCAGGTATTCCTATTATGCATAGATTGTATCTCCTGGACCGGCCCTCTAGATCTCTCTTTTT... | pathogenic | 137,300 |
Chromosome 8, position 91078564, gene OTUD6B (OTU deubiquitinase 6B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_dysmorphic_facies,_seizures,_and_distal_limb_anomalies'] | TGCCACTCTTTCAGTAAATAGTACATGACATCATTAACTCCAGCTCCCATCTGCTCCAACTTTTATTCTGATTCAGGTGCCTGGATAGAAGGAGCTCTCTGTGTTGTCCTTGGTCCCTGCTCTGCTCTTACCAGCTGTATGGCCTTTGGAAATCTTTCTGCGTGCTGTTTCCTCAGAAGAGGAAAATGAGGGGTTTTGGATTAGATGATATCTAAGGTGCTTATTCTTCCTTTCCCCTCTGAAACTTTTTTAGTCTTTTATAAAGTAATAGTGCCATCTTGTGTTTTAAGATATTATGCCTCTGTGATCCACAGTTCTAG... | TGCCACTCTTTCAGTAAATAGTACATGACATCATTAACTCCAGCTCCCATCTGCTCCAACTTTTATTCTGATTCAGGTGCCTGGATAGAAGGAGCTCTCTGTGTTGTCCTTGGTCCCTGCTCTGCTCTTACCAGCTGTATGGCCTTTGGAAATCTTTCTGCGTGCTGTTTCCTCAGAAGAGGAAAATGAGGGGTTTTGGATTAGATGATATCTAAGGTGCTTATTCTTCCTTTCCCCTCTGAAACTTTTTTAGTCTTTTATAAAGTAATAGTGCCATCTTGTGTTTTAAGATATTATGCCTCTGTGATCCACAGTTCTAG... | pathogenic | 137,303 |
Chromosome 8, position 93755775, gene TMEM67 (transmembrane protein 67): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_6', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome'] | AATTAAAATAAATTTTATTTGTAGAGGTGGAGTCTCACTATGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAGACAATCCTTCCACTGTGGCCTCCCAAAATGTTAGGATTAGAGGTGTGAGCCACAGCACCAGGCTTAGATTCCTTTATTCACAAAAGGTGTAAAGGTGATCTCATTTTATATACATGTCAACTAAAGAAAAAAATCAGGCTTTTAAAGACTCAAAGTTAGTTTTATTCGGAGTCTTACTGAGGAATGCAACCCTGGAGAGTCTTTCAAAGAGTTTATGTTATACTGGTCCAAAGCAGCTGTTCTGC... | AATTAAAATAAATTTTATTTGTAGAGGTGGAGTCTCACTATGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAGACAATCCTTCCACTGTGGCCTCCCAAAATGTTAGGATTAGAGGTGTGAGCCACAGCACCAGGCTTAGATTCCTTTATTCACAAAAGGTGTAAAGGTGATCTCATTTTATATACATGTCAACTAAAGAAAAAAATCAGGCTTTTAAAGACTCAAAGTTAGTTTTATTCGGAGTCTTACTGAGGAATGCAACCCTGGAGAGTCTTTCAAAGAGTTTATGTTATACTGGTCCAAAGCAGCTGTTCTGC... | pathogenic | 137,314 |
The chromosome 8, position 93758462 genetic variant in gene TMEM67 (transmembrane protein 67): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TAATTCTCAACATAAATATATTTTTCAATCATGTTGGATAATTAAAAGTCTGTGTAACAGTTGTGACATTTACAGTAATGTTTCTTCTCATTGTCATATAAAAAATATTAATTCTGGGAATTTAATGTGAAGTTATCAATTGTCCCAATTTATAGCTATCTGTATTACTTGTAAGTCTGATTACCACTTTTTATATTACCATTTATTTTATATCTTTATAATAGATTATAATAGATTACCATTTATTTTATATCTTTGCAAATATTGATCCTAGCTGAATTACCCATGATAAAAAGCTGCTAATAAAAAGTGGTCTCGCA... | TAATTCTCAACATAAATATATTTTTCAATCATGTTGGATAATTAAAAGTCTGTGTAACAGTTGTGACATTTACAGTAATGTTTCTTCTCATTGTCATATAAAAAATATTAATTCTGGGAATTTAATGTGAAGTTATCAATTGTCCCAATTTATAGCTATCTGTATTACTTGTAAGTCTGATTACCACTTTTTATATTACCATTTATTTTATATCTTTATAATAGATTATAATAGATTACCATTTATTTTATATCTTTGCAAATATTGATCCTAGCTGAATTACCCATGATAAAAAGCTGCTAATAAAAAGTGGTCTCGCA... | benign | 137,323 |
Variant at chromosome position 93763911, chromosome 8, gene TMEM67 (transmembrane protein 67): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Joubert_syndrome_6', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome'] | ATTTCTGAAAAGACTCATAAGAAACTGTTAACAATGCTGCCTCCTGAGTGAAGAACTGAGTGCCTGGGAATAGTGGGAAAGAGACTTAATTTTCATTTTAAATCTTTTTTTGCTTGGTGCAGTGTTTCACGCCTGTAATCGCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTTAGAAGTTCAAAACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGACACTGAGGCAGGAGAATCACTTGAATCTGGG... | ATTTCTGAAAAGACTCATAAGAAACTGTTAACAATGCTGCCTCCTGAGTGAAGAACTGAGTGCCTGGGAATAGTGGGAAAGAGACTTAATTTTCATTTTAAATCTTTTTTTGCTTGGTGCAGTGTTTCACGCCTGTAATCGCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTTAGAAGTTCAAAACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGACACTGAGGCAGGAGAATCACTTGAATCTGGG... | pathogenic | 137,329 |
Is the genetic mutation found on chromosome 8 at position 93765573, within the gene TMEM67 (transmembrane protein 67), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'TMEM67-related_disorder'] | GAGGTAAGAAAATTTTTGAGGAAAAAAATACTGACTTAATTGTTACGATGACTTGGAAAATGATTTTCTATATTTTACTATGTGAGAATAGGGAAGGCATCACTTCTCTTTTTTTTTGGAGGCATGGACGGGTACGAAGGGATCACTTCTCTACACTTTATTATGGAGATACTTGTTATGCCTTTAATGCAAATAAAGTGTTTTGAGAATTAATAGAATAATAGTTACAATTGGGTTTTGTTAAATATTTTCTGAATATGTAGAAGCTTATATGTTTACTATGAGTTACATCTTTATTTTGTTTCTAAACTGTTCAGTGG... | GAGGTAAGAAAATTTTTGAGGAAAAAAATACTGACTTAATTGTTACGATGACTTGGAAAATGATTTTCTATATTTTACTATGTGAGAATAGGGAAGGCATCACTTCTCTTTTTTTTTGGAGGCATGGACGGGTACGAAGGGATCACTTCTCTACACTTTATTATGGAGATACTTGTTATGCCTTTAATGCAAATAAAGTGTTTTGAGAATTAATAGAATAATAGTTACAATTGGGTTTTGTTAAATATTTTCTGAATATGTAGAAGCTTATATGTTTACTATGAGTTACATCTTTATTTTGTTTCTAAACTGTTCAGTGG... | pathogenic | 137,336 |
Benign or pathogenic: chromosome 8, position 93765573, gene TMEM67 (transmembrane protein 67) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_6', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome', 'TMEM67-related_disorder'] | GAGGTAAGAAAATTTTTGAGGAAAAAAATACTGACTTAATTGTTACGATGACTTGGAAAATGATTTTCTATATTTTACTATGTGAGAATAGGGAAGGCATCACTTCTCTTTTTTTTTGGAGGCATGGACGGGTACGAAGGGATCACTTCTCTACACTTTATTATGGAGATACTTGTTATGCCTTTAATGCAAATAAAGTGTTTTGAGAATTAATAGAATAATAGTTACAATTGGGTTTTGTTAAATATTTTCTGAATATGTAGAAGCTTATATGTTTACTATGAGTTACATCTTTATTTTGTTTCTAAACTGTTCAGTGG... | GAGGTAAGAAAATTTTTGAGGAAAAAAATACTGACTTAATTGTTACGATGACTTGGAAAATGATTTTCTATATTTTACTATGTGAGAATAGGGAAGGCATCACTTCTCTTTTTTTTTGGAGGCATGGACGGGTACGAAGGGATCACTTCTCTACACTTTATTATGGAGATACTTGTTATGCCTTTAATGCAAATAAAGTGTTTTGAGAATTAATAGAATAATAGTTACAATTGGGTTTTGTTAAATATTTTCTGAATATGTAGAAGCTTATATGTTTACTATGAGTTACATCTTTATTTTGTTTCTAAACTGTTCAGTGG... | pathogenic | 137,337 |
Is the genetic mutation found on chromosome 8 at position 93786265, within the gene TMEM67 (transmembrane protein 67), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_6', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome'] | AATAAATGTTATTGTGCTTCTAACATAGGCCAGAAAGATCAACACTTATGTAATGCCTATCTGTGTGCTCAGCATTTTATCGTTATTATCCCATTTGATTCATAAAATAACTATATGAGATACATAGTATCTGTGCTTCACAGATGAGGAAATTATGCCGTGTAATTAGGTAATTTACTCAAAGACTTGTGTCACATAAACTGTGGAGCCAATGTTCTATCATCAGGTTTAAAAAGCATTTTTATTTCTTTGAACCTGGCTAACTCTCAAGTCCTTCATAGACTAGTGGGCAAAACAGTTATATAGACAAAGAATTGCAA... | AATAAATGTTATTGTGCTTCTAACATAGGCCAGAAAGATCAACACTTATGTAATGCCTATCTGTGTGCTCAGCATTTTATCGTTATTATCCCATTTGATTCATAAAATAACTATATGAGATACATAGTATCTGTGCTTCACAGATGAGGAAATTATGCCGTGTAATTAGGTAATTTACTCAAAGACTTGTGTCACATAAACTGTGGAGCCAATGTTCTATCATCAGGTTTAAAAAGCATTTTTATTTCTTTGAACCTGGCTAACTCTCAAGTCCTTCATAGACTAGTGGGCAAAACAGTTATATAGACAAAGAATTGCAA... | pathogenic | 137,373 |
A genetic variant at chromosome 8, position 93786286, affecting gene TMEM67 (transmembrane protein 67)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_6', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome'] | AACATAGGCCAGAAAGATCAACACTTATGTAATGCCTATCTGTGTGCTCAGCATTTTATCGTTATTATCCCATTTGATTCATAAAATAACTATATGAGATACATAGTATCTGTGCTTCACAGATGAGGAAATTATGCCGTGTAATTAGGTAATTTACTCAAAGACTTGTGTCACATAAACTGTGGAGCCAATGTTCTATCATCAGGTTTAAAAAGCATTTTTATTTCTTTGAACCTGGCTAACTCTCAAGTCCTTCATAGACTAGTGGGCAAAACAGTTATATAGACAAAGAATTGCAAAGAATGTGATAAGTGTCATTC... | AACATAGGCCAGAAAGATCAACACTTATGTAATGCCTATCTGTGTGCTCAGCATTTTATCGTTATTATCCCATTTGATTCATAAAATAACTATATGAGATACATAGTATCTGTGCTTCACAGATGAGGAAATTATGCCGTGTAATTAGGTAATTTACTCAAAGACTTGTGTCACATAAACTGTGGAGCCAATGTTCTATCATCAGGTTTAAAAAGCATTTTTATTTCTTTGAACCTGGCTAACTCTCAAGTCCTTCATAGACTAGTGGGCAAAACAGTTATATAGACAAAGAATTGCAAAGAATGTGATAAGTGTCATTC... | pathogenic | 137,375 |
Is the genetic change at chromosome 8, position 93795391, within gene TMEM67 (transmembrane protein 67) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTGGATCCTTCTCATAAGACACAGCTAGAGAATAAGTAAAAAAGTTGCATTGAATTTTTCTGGGATATGTAATTAGGGTAAGTATTGCTGGGTCATATGGTATATGTGTACCTCATTTTCTTCCCACCATACTGTATGCCAGTCTATATTCCCACCAGCAATGCTCTTCTTATTTCTGCACATACTTGGCAACACTTGATATTTTTCCAACCTTTTCATTTTTTGCCAACCTCATGGCATATAGTAGTATGTCATTGTTGATTTCATTTTCATTTCTCTGTACTCTTCATATACATTTTAATCGTTTGGGTTTCTCCTT... | TCTGGATCCTTCTCATAAGACACAGCTAGAGAATAAGTAAAAAAGTTGCATTGAATTTTTCTGGGATATGTAATTAGGGTAAGTATTGCTGGGTCATATGGTATATGTGTACCTCATTTTCTTCCCACCATACTGTATGCCAGTCTATATTCCCACCAGCAATGCTCTTCTTATTTCTGCACATACTTGGCAACACTTGATATTTTTCCAACCTTTTCATTTTTTGCCAACCTCATGGCATATAGTAGTATGTCATTGTTGATTTCATTTTCATTTCTCTGTACTCTTCATATACATTTTAATCGTTTGGGTTTCTCCTT... | benign | 137,388 |
Gene TMEM67 (transmembrane protein 67) variant at chromosome position 93797332 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome'] | GGATATGTGAAACAAGGCTTCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGA... | GGATATGTGAAACAAGGCTTCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGA... | pathogenic | 137,398 |
Is the variant located on chromosome 8 at position 93797336, gene TMEM67 (transmembrane protein 67), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | ATGTGAAACAAGGCTTCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGATCAA... | ATGTGAAACAAGGCTTCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGATCAA... | pathogenic | 137,399 |
A mutation at chromosome position 93797351 on chromosome 8 in gene TMEM67 (transmembrane protein 67): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Anhydramnios', 'Enlarged_kidney', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Multiple_renal_cysts'] | TCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGATCAACAGTATTAAGAAAAG... | TCAGGCTTAAGAAATGGAGTGGATGATGTATAAAAGTGGTAGTGTTACTAAAAGTGGTATATACATGGAGTCTTAAACAGCTGTAATTCTTTTTTTTAAATTGCAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTTACTGGCTTATTTTCTTCAAAGTGAGTGAGTTTCTGAATTTTCCCCAACTGCCAATATCTGAATAGTTGAAAAGCTTTCTTTATAAAGGAACTATTTTTATTTGAGAGAATTTTTGATCAACAGTATTAAGAAAAG... | pathogenic | 137,401 |
Variant chromosome 8, position 93803688, gene TMEM67 (transmembrane protein 67): benign or pathogenic? Disease(s)? | pathogenic; ['Joubert_syndrome_6', 'Joubert_syndrome_and_related_disorders'] | TATCCTGCCATCTCAGCCTCCCAAAGTGCCAGGGTTGCACGTGTGAGCCAGATTGAAATATTTTTAAGAGAGCTTATTCTTAGAGAATTAGGTCCAGGTGGTGGTATTCAGTAATCTGTGGATTAACTTTTTAAATATATACTTATTTTAAATTGATGAGACTTACTCAAACTTGAAACTACAGGGATAGAGTTAGTAAAGGACAGCTGACAACCAGAAAAAGAAGACAAATATATTAGAATTGGAAACAAGATAGAATCAAAAGAGTATAGGGTTTGATGTTTATCATCAATGTTAAGGAAATATTTTGTACAATATAC... | TATCCTGCCATCTCAGCCTCCCAAAGTGCCAGGGTTGCACGTGTGAGCCAGATTGAAATATTTTTAAGAGAGCTTATTCTTAGAGAATTAGGTCCAGGTGGTGGTATTCAGTAATCTGTGGATTAACTTTTTAAATATATACTTATTTTAAATTGATGAGACTTACTCAAACTTGAAACTACAGGGATAGAGTTAGTAAAGGACAGCTGACAACCAGAAAAAGAAGACAAATATATTAGAATTGGAAACAAGATAGAATCAAAAGAGTATAGGGTTTGATGTTTATCATCAATGTTAAGGAAATATTTTGTACAATATAC... | pathogenic | 137,406 |
Clinical classification of chromosome 8, position 93804866, gene TMEM67 (transmembrane protein 67): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_14', 'COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_6', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_3', 'Nephronophthisis_11', 'RHYNS_syndrome'] | TATCTATTCATCCACATATTTGAGTGCATTTTATGTATTGGATGCTGTGCTGAGCTTATGGATCTGCTGTTACAGGAACAAATGACAGATTGTGCCAAGTGCTGTGAAGAGAATCAGCAGGGACATGAGATAGAGAGTAACTAGAAGGGAGGGGAGTGGAAGATAGGAATGGGGGACAGTGGGGACAGCTTTAAATAGGGGAGTTAGGAAGTTTTATCTTTTCCTGAAACATGTCTAAAAAGATGTACCATGTAAAATTTTTATTTATAAAATTTCTGTTTCTAGTATTAAATCTAAGAAAACACAGGAAACCATTCCAT... | TATCTATTCATCCACATATTTGAGTGCATTTTATGTATTGGATGCTGTGCTGAGCTTATGGATCTGCTGTTACAGGAACAAATGACAGATTGTGCCAAGTGCTGTGAAGAGAATCAGCAGGGACATGAGATAGAGAGTAACTAGAAGGGAGGGGAGTGGAAGATAGGAATGGGGGACAGTGGGGACAGCTTTAAATAGGGGAGTTAGGAAGTTTTATCTTTTCCTGAAACATGTCTAAAAAGATGTACCATGTAAAATTTTTATTTATAAAATTTCTGTTTCTAGTATTAAATCTAAGAAAACACAGGAAACCATTCCAT... | pathogenic | 137,409 |
Variant in gene NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6), located at chromosome 8 position 95035578: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CATAAAACAGGGTCTGCACTCAATGAACAAATAAATCATTGTGTAATGTATCAGATGGAGACTAGTGCTATGGAGAGAAATAAAGCAGGATAAGGAGGCTTCGAAGGCTGGGTACACCAGGGGTTCCTATTTTATGTAGGATGGTTAGGAGAAACCTCACGGAGAAGGTGGCATTGGAGCAGAGATCTGAAGGAGGTGAGGGAGTGAGCTGTACAGATATGTGGGCAAAGAGTATTCTAGGCAGAAGGAACAGCGAGTGCAGTCTCTAAGGTGCAATTGTGCCTGCTTAAAGAACAGAAGAAGGCAGGTGGTCCAGCAGA... | CATAAAACAGGGTCTGCACTCAATGAACAAATAAATCATTGTGTAATGTATCAGATGGAGACTAGTGCTATGGAGAGAAATAAAGCAGGATAAGGAGGCTTCGAAGGCTGGGTACACCAGGGGTTCCTATTTTATGTAGGATGGTTAGGAGAAACCTCACGGAGAAGGTGGCATTGGAGCAGAGATCTGAAGGAGGTGAGGGAGTGAGCTGTACAGATATGTGGGCAAAGAGTATTCTAGGCAGAAGGAACAGCGAGTGCAGTCTCTAAGGTGCAATTGTGCCTGCTTAAAGAACAGAAGAAGGCAGGTGGTCCAGCAGA... | benign | 137,484 |
Classify the chromosome 8 variant at position 95041554 affecting gene NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAGCTCAAGCTATTCTCCCACCTTATCCTCCCAAAGTGCTGGTATTACAGGTATTAGCCACCGCCCCGGCCTAATATTTTCTAAGAATAGTGATACTTATAATCAGGACAGTTTTTTTTTTTATTTCTATTTTTTTCCTAAAGATAGGATCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGTGGTGATCATAGCTCACTGCCACCTTGAATTCCTGGGCTTTATCCTCCTGCGTCAGCCTTCTGAGTAGCTGGAACTACAAGCACGTACCAGCAAGCTCAGCTAATTTTTAAATGTTTTGTAGAGATGAGGTTGCTATGT... | GAGCTCAAGCTATTCTCCCACCTTATCCTCCCAAAGTGCTGGTATTACAGGTATTAGCCACCGCCCCGGCCTAATATTTTCTAAGAATAGTGATACTTATAATCAGGACAGTTTTTTTTTTTATTTCTATTTTTTTCCTAAAGATAGGATCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGTGGTGATCATAGCTCACTGCCACCTTGAATTCCTGGGCTTTATCCTCCTGCGTCAGCCTTCTGAGTAGCTGGAACTACAAGCACGTACCAGCAAGCTCAGCTAATTTTTAAATGTTTTGTAGAGATGAGGTTGCTATGT... | benign | 137,487 |
The mutation impacting NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) on chromosome 8 at position 95045545: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_renotubular_syndrome_5', 'Mitochondrial_complex_1_deficiency,_nuclear_type_17'] | AATTATCTAAAATATGCAAGAAACTCTTACAACTCAAGAATAAAAAAAAAATCCTAATTTAAAAATGGGGAAAGGATTTGAGTAGACATTTCTCCAGATAAGGTGTACAAATGACCAATAAGCATCTGAAAAGATGTTCAGCATCTTTTCATTAGAGAAATGCAAATTGAAACAAAGAAACATCACTTCACAGCTGTTGGGATGGCTGTGATAAAAAAGAAAAAAGATGCACGATAACAAGTATTGGTGAGAACAGGGAGATGTTAAAACCTTTCGTACATTGCTGGTGGGAATGTGAAATGGTGCAGCTGCTTTGGAAA... | AATTATCTAAAATATGCAAGAAACTCTTACAACTCAAGAATAAAAAAAAAATCCTAATTTAAAAATGGGGAAAGGATTTGAGTAGACATTTCTCCAGATAAGGTGTACAAATGACCAATAAGCATCTGAAAAGATGTTCAGCATCTTTTCATTAGAGAAATGCAAATTGAAACAAAGAAACATCACTTCACAGCTGTTGGGATGGCTGTGATAAAAAAGAAAAAAGATGCACGATAACAAGTATTGGTGAGAACAGGGAGATGTTAAAACCTTTCGTACATTGCTGGTGGGAATGTGAAATGGTGCAGCTGCTTTGGAAA... | pathogenic | 137,490 |
Gene NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) variant at chromosome position 95045622 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_17'] | TTGAGTAGACATTTCTCCAGATAAGGTGTACAAATGACCAATAAGCATCTGAAAAGATGTTCAGCATCTTTTCATTAGAGAAATGCAAATTGAAACAAAGAAACATCACTTCACAGCTGTTGGGATGGCTGTGATAAAAAAGAAAAAAGATGCACGATAACAAGTATTGGTGAGAACAGGGAGATGTTAAAACCTTTCGTACATTGCTGGTGGGAATGTGAAATGGTGCAGCTGCTTTGGAAAAATAGTTTGGCAACTTTTTCTTCGAAGAGATAAACATAGGAGTTATCATAGACCCAGAAATTCTACCCCTAGGTTTA... | TTGAGTAGACATTTCTCCAGATAAGGTGTACAAATGACCAATAAGCATCTGAAAAGATGTTCAGCATCTTTTCATTAGAGAAATGCAAATTGAAACAAAGAAACATCACTTCACAGCTGTTGGGATGGCTGTGATAAAAAAGAAAAAAGATGCACGATAACAAGTATTGGTGAGAACAGGGAGATGTTAAAACCTTTCGTACATTGCTGGTGGGAATGTGAAATGGTGCAGCTGCTTTGGAAAAATAGTTTGGCAACTTTTTCTTCGAAGAGATAAACATAGGAGTTATCATAGACCCAGAAATTCTACCCCTAGGTTTA... | pathogenic | 137,491 |
Regarding the variant found on chromosome 8 at position 95263752 in gene CFAP418 (cilia and flagella associated protein 418): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bardet-biedl_syndrome_21', 'Cone-rod_dystrophy_16', 'Retinitis_pigmentosa'] | AAGATCATGATTAAAAATTTACTTCTTCATGATTATAAGAGCTACTTTTATTTCAAATTAGTATATCTTAAAGCCAAACCAGAGAAGTACTTATCTTCTTCTGAAACACCTTAACTGAAAAGATAGCGCCTCATATACAGATATGCACCCTATTGGTACTTAATAAACAATGAATTGCTCAGATGATTAATGAAGAGCAACAAAATGATGTAATTTTTTTCTACCATTAATTAGTACTACTAATTGGCATTACTATTCAGTGCTTATGCACTTACTCAGTATTTAGGAAGTATTCTATTTGCAGGGTACAGGTGACCCTT... | AAGATCATGATTAAAAATTTACTTCTTCATGATTATAAGAGCTACTTTTATTTCAAATTAGTATATCTTAAAGCCAAACCAGAGAAGTACTTATCTTCTTCTGAAACACCTTAACTGAAAAGATAGCGCCTCATATACAGATATGCACCCTATTGGTACTTAATAAACAATGAATTGCTCAGATGATTAATGAAGAGCAACAAAATGATGTAATTTTTTTCTACCATTAATTAGTACTACTAATTGGCATTACTATTCAGTGCTTATGCACTTACTCAGTATTTAGGAAGTATTCTATTTGCAGGGTACAGGTGACCCTT... | pathogenic | 137,518 |
Does the chromosome 8 mutation at position 99038532 within gene VPS13B (vacuolar protein sorting 13 homolog B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cohen_syndrome'] | GTTTCACCTTTTACTATATATGTATGTTGTTTATTTTTCCTTCCTCTGTGATTTTGAAATTGAAACTATCTTGCTTATAGTCAGATCATATGGCTCAAAATTCCATGTTCTAATCCAGAAAGCCACCTCTTGTGTTACTGTTTGGTTAGTAGCATTCTGATGATACTAAGTTCTTGAGTTTGATTCAGGTGTCTTTAAACATTTGTACTCTGAGAACTCTGAGACAATCTGATTTATGCCCTTAGACTGCAACTTTGGTAGCCATTTTGCAAATATATCATTGTTACACAAGGCGTAGGGTGGTAGAGGTGGAATTGTAA... | GTTTCACCTTTTACTATATATGTATGTTGTTTATTTTTCCTTCCTCTGTGATTTTGAAATTGAAACTATCTTGCTTATAGTCAGATCATATGGCTCAAAATTCCATGTTCTAATCCAGAAAGCCACCTCTTGTGTTACTGTTTGGTTAGTAGCATTCTGATGATACTAAGTTCTTGAGTTTGATTCAGGTGTCTTTAAACATTTGTACTCTGAGAACTCTGAGACAATCTGATTTATGCCCTTAGACTGCAACTTTGGTAGCCATTTTGCAAATATATCATTGTTACACAAGGCGTAGGGTGGTAGAGGTGGAATTGTAA... | pathogenic | 137,652 |
For chromosome 8, position 99102961, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cohen_syndrome'] | ACGTGCCTGTAATCCTAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTCGTGAGTTGAGATCATGCCATTGCACTCTAGCCTGGACGATAGAGAGAGACTAGTCTCAAAAAAAAAAAAAGTTCCCTGTTCATGACAGGTTTTTGAGAAATAGGGAAACCAATATTAGTCATGCTCACTTGACTTCTTGGAAACATTTTTATTTATTTATTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAC... | ACGTGCCTGTAATCCTAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTCGTGAGTTGAGATCATGCCATTGCACTCTAGCCTGGACGATAGAGAGAGACTAGTCTCAAAAAAAAAAAAAGTTCCCTGTTCATGACAGGTTTTTGAGAAATAGGGAAACCAATATTAGTCATGCTCACTTGACTTCTTGGAAACATTTTTATTTATTTATTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAC... | pathogenic | 137,660 |
Evaluate this variant at chromosome 8, position 99103002, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases'] | GAATCACTTGAACCCGGGAGGCGGAGGTTGTCGTGAGTTGAGATCATGCCATTGCACTCTAGCCTGGACGATAGAGAGAGACTAGTCTCAAAAAAAAAAAAAGTTCCCTGTTCATGACAGGTTTTTGAGAAATAGGGAAACCAATATTAGTCATGCTCACTTGACTTCTTGGAAACATTTTTATTTATTTATTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACA... | GAATCACTTGAACCCGGGAGGCGGAGGTTGTCGTGAGTTGAGATCATGCCATTGCACTCTAGCCTGGACGATAGAGAGAGACTAGTCTCAAAAAAAAAAAAAGTTCCCTGTTCATGACAGGTTTTTGAGAAATAGGGAAACCAATATTAGTCATGCTCACTTGACTTCTTGGAAACATTTTTATTTATTTATTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACA... | pathogenic | 137,662 |
Clinically, how would you classify the variant at chromosome 8, position 99115729, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cohen_syndrome'] | CAGCTTCCCGAGTAGCTGGGATTACAGGCGCCGGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCCTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATC... | CAGCTTCCCGAGTAGCTGGGATTACAGGCGCCGGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCCTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATC... | pathogenic | 137,669 |
Mutation at chromosome 8, position 99115752, within VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cohen_syndrome'] | ACAGGCGCCGGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCCTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAA... | ACAGGCGCCGGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCCTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAA... | pathogenic | 137,670 |
Clinical classification of chromosome 8, position 99115834, gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | AACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAACATTTCTCCTGTTTTTAGAAATTTACTTTGCAGTTTCTCAGAGCAGTGAAATTCTGTGCATAGAACTTTGACCACATTTCCT... | AACTCCTGACCTCATGATCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAACATTTCTCCTGTTTTTAGAAATTTACTTTGCAGTTTCTCAGAGCAGTGAAATTCTGTGCATAGAACTTTGACCACATTTCCT... | pathogenic | 137,671 |
Is the genetic mutation found on chromosome 8 at position 99115851, within the gene VPS13B (vacuolar protein sorting 13 homolog B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cohen_syndrome'] | TCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAACATTTCTCCTGTTTTTAGAAATTTACTTTGCAGTTTCTCAGAGCAGTGAAATTCTGTGCATAGAACTTTGACCACATTTCCTGAGTAATTCCTTAGGAA... | TCCGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCGCCTGGCCCCTCTATTTCTTTTCAAATCTTTCATGTATGTTTATTTTGAATGTATTTATATGTTGGGTTGGCTTTTTATAATTTTCCATTTTTTTTGTGTGAGATACATACGTTCTGGTGATTATGATGTTTATGAGATACAGATCCTATGGGTACGTAATTTATTTAACATTTCTCCTGTTTTTAGAAATTTACTTTGCAGTTTCTCAGAGCAGTGAAATTCTGTGCATAGAACTTTGACCACATTTCCTGAGTAATTCCTTAGGAA... | pathogenic | 137,672 |
A genetic alteration at chromosome 8, position 99121239, in gene VPS13B (vacuolar protein sorting 13 homolog B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cohen_syndrome'] | TGTCCATTTAAAGCTTTTTTGTGTCTTTTAAAAATTTTATTTTACTTTATGTATTTATTATTTATTTATTGACATAGTCTCACTCTGTTGCCTAGGCTGGAGTATGATGGCATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCCGAGTGGCTGGGTGGGACTACAGGTGCACGACACTGAGTGTGGCTGATAAATTTTGTTTTGTTTTGTTTTTGGTTGAGGTGGGGGTCTCACTTTGTTGCAGTAGGCTGTTCTTGAACTCCTGGCTTCATGTGATTCTCCCATCTCG... | TGTCCATTTAAAGCTTTTTTGTGTCTTTTAAAAATTTTATTTTACTTTATGTATTTATTATTTATTTATTGACATAGTCTCACTCTGTTGCCTAGGCTGGAGTATGATGGCATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCCGAGTGGCTGGGTGGGACTACAGGTGCACGACACTGAGTGTGGCTGATAAATTTTGTTTTGTTTTGTTTTTGGTTGAGGTGGGGGTCTCACTTTGTTGCAGTAGGCTGTTCTTGAACTCCTGGCTTCATGTGATTCTCCCATCTCG... | pathogenic | 137,674 |
Evaluate if the mutation on chromosome 8 at position 99121462 in VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AATTTTGTTTTGTTTTGTTTTTGGTTGAGGTGGGGGTCTCACTTTGTTGCAGTAGGCTGTTCTTGAACTCCTGGCTTCATGTGATTCTCCCATCTCGGGCTCCCAAAGTGCTGGGATTATAGGAATGAGCCAGTGGGCCCAACAGGGTTTGCACCTTATATAAAACTTATTCTGAACTACAATGGCTTAAGTGTCTTGGTACTGTTATTTTAGTTACTCTAGTTAATTCTTATTAAGCCTTTTCCTTCTCAGGTGAAAGAAGGTAAACATTCATAACCTATAAATGTAGAATGTTCCAAGAGTCTCCTGTCATAAGAGTT... | AATTTTGTTTTGTTTTGTTTTTGGTTGAGGTGGGGGTCTCACTTTGTTGCAGTAGGCTGTTCTTGAACTCCTGGCTTCATGTGATTCTCCCATCTCGGGCTCCCAAAGTGCTGGGATTATAGGAATGAGCCAGTGGGCCCAACAGGGTTTGCACCTTATATAAAACTTATTCTGAACTACAATGGCTTAAGTGTCTTGGTACTGTTATTTTAGTTACTCTAGTTAATTCTTATTAAGCCTTTTCCTTCTCAGGTGAAAGAAGGTAAACATTCATAACCTATAAATGTAGAATGTTCCAAGAGTCTCCTGTCATAAGAGTT... | benign | 137,678 |
Evaluate the clinical significance of the mutation at chromosome 8, position 99134721 in gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cohen_syndrome'] | CATTACTCCTAATCCATGGGCTGCAGAATGGATGTCATTTTAGCAGGCATGAAAAACAATATTCATCTCCTTGTATGTCTCCATCAGAGGTGTAGGGTGACCAGATGCATTGTCAGTGAGCAGTAATATTTTAAGAGGAGTCCTTTTTTTTGAGAAGTAGGTTTCCATAGGCTTAAAGTATTTAGTAAACCATGCCATAAACAGATGTACTGTCATTCAGTCATTTTTTTTCCATTCATAGAGCACAAGCAAAGTAGATTTAGCATGATTCTTAAGGGCCCTAGGATTTTCAGAATGGTAAATGAACACTATCTTCAACT... | CATTACTCCTAATCCATGGGCTGCAGAATGGATGTCATTTTAGCAGGCATGAAAAACAATATTCATCTCCTTGTATGTCTCCATCAGAGGTGTAGGGTGACCAGATGCATTGTCAGTGAGCAGTAATATTTTAAGAGGAGTCCTTTTTTTTGAGAAGTAGGTTTCCATAGGCTTAAAGTATTTAGTAAACCATGCCATAAACAGATGTACTGTCATTCAGTCATTTTTTTTCCATTCATAGAGCACAAGCAAAGTAGATTTAGCATGATTCTTAAGGGCCCTAGGATTTTCAGAATGGTAAATGAACACTATCTTCAACT... | pathogenic | 137,686 |
Does the genetic variant at chromosome 8, position 99135015, impacting gene VPS13B (vacuolar protein sorting 13 homolog B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cohen_syndrome'] | ATGGTAAATGAACACTATCTTCAACTTAAAGTTACCAGATATGTTAGCCCCTAACAAGAGCATCCGCCTGTATTTTGAAGCTTTGAAGCCAAGCACTGACTTTTCCTCTCTAGCTCAGATGACATCTTCTTCCAGGAGAAGGCTGTTTGGTCTGTGTTGAAAATCTGTTGATTAGTGTAGCCACTTTCGTTAATTATCTTAGCTAGGTCTTCTGGGTAACTGCGTGCAGCTTCTACGTCAACCCTTGCGCTTTTATGGTATGGAGACGTCTTCGTTCCATAAGGCTCATGAACAGACCTCTGCTACTGTCGGACTTTTCT... | ATGGTAAATGAACACTATCTTCAACTTAAAGTTACCAGATATGTTAGCCCCTAACAAGAGCATCCGCCTGTATTTTGAAGCTTTGAAGCCAAGCACTGACTTTTCCTCTCTAGCTCAGATGACATCTTCTTCCAGGAGAAGGCTGTTTGGTCTGTGTTGAAAATCTGTTGATTAGTGTAGCCACTTTCGTTAATTATCTTAGCTAGGTCTTCTGGGTAACTGCGTGCAGCTTCTACGTCAACCCTTGCGCTTTTATGGTATGGAGACGTCTTCGTTCCATAAGGCTCATGAACAGACCTCTGCTACTGTCGGACTTTTCT... | pathogenic | 137,688 |
Chromosome 8, position 99135650, gene VPS13B (vacuolar protein sorting 13 homolog B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cohen_syndrome'] | AGAGACAGGGACTCTTCCTTTCACTTAAATACTTAGACCATTGTAATATTACTAATTAGCCTAATTTCAATATTGTTCTGTCTCAGGAAATAGGCCCAAGGAGAAGGGAGAGAGGGGAGTGGCTAGACAGTGGAACAGTCAGAACACACACATGTATCAATTAAGTTCTCAGTCTTAAATGGGCATGTTCATGGTGCCCCAAAATAGTTCCAATAGTACTATCAAAGATAACTGATTACAGATCACCATAACAGATAATAATAATGAAAAATTTTGAACTATTGGGAGAATTACCAAAATGTGACACAGAAACACAAAGT... | AGAGACAGGGACTCTTCCTTTCACTTAAATACTTAGACCATTGTAATATTACTAATTAGCCTAATTTCAATATTGTTCTGTCTCAGGAAATAGGCCCAAGGAGAAGGGAGAGAGGGGAGTGGCTAGACAGTGGAACAGTCAGAACACACACATGTATCAATTAAGTTCTCAGTCTTAAATGGGCATGTTCATGGTGCCCCAAAATAGTTCCAATAGTACTATCAAAGATAACTGATTACAGATCACCATAACAGATAATAATAATGAAAAATTTTGAACTATTGGGAGAATTACCAAAATGTGACACAGAAACACAAAGT... | pathogenic | 137,689 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome 8, position 99142984—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cohen_syndrome'] | TATTTGTTAATGTTGTAATGACTACCTTTCTAGTCTTTTCTGTTTAAGGGGGTTATTACAAATGTTATGGACCCTAAAGTAGATAGCTGAAATTGTAATGTACAACAGGAAGATTTTAGAGATAACCAATTTTAGAGATACAATAGGAGATAAATCTGAAACAATTAAGTTATTGAATTGAAGGGCAAGAATTGAGAAAGAGTCTTGACTCTTAATAAGGGCAGCCAAACATTCAGGGAGCTGGAGTGGCCAGATGCATGAAAGGTGGGCACAAGTAAATAGCTGAAAATATATAGCTAAAAGCCAGTTGTGTTTTTACA... | TATTTGTTAATGTTGTAATGACTACCTTTCTAGTCTTTTCTGTTTAAGGGGGTTATTACAAATGTTATGGACCCTAAAGTAGATAGCTGAAATTGTAATGTACAACAGGAAGATTTTAGAGATAACCAATTTTAGAGATACAATAGGAGATAAATCTGAAACAATTAAGTTATTGAATTGAAGGGCAAGAATTGAGAAAGAGTCTTGACTCTTAATAAGGGCAGCCAAACATTCAGGGAGCTGGAGTGGCCAGATGCATGAAAGGTGGGCACAAGTAAATAGCTGAAAATATATAGCTAAAAGCCAGTTGTGTTTTTACA... | pathogenic | 137,697 |
Determine whether the variant at chromosome 8, position 99384210, in gene VPS13B (vacuolar protein sorting 13 homolog B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cohen_syndrome'] | TCTATTCTGTTCCATTGGTTTATGTGTCTGCTTTTGTAAAGGTGTCATGCTGTTTTGGTTACTATAGTCTTGTAGTATAGATTGAAATTGGGTAATGTGATGCCTCCAGCTTTGTTCTTTTAGCTTAGGATTGCCTTGACTACTCAAGCTCTTTTTTCATTTCATATGAATTTTTAAATAGTTTTTTCTAGTTCTGTGAAGAGTGTCATTGGTAGTTTGATAGGAACAGCATTGAATCTGTAAATTGCTTTGGACAGAATGGCCCTTTTAATGATATTGATTCGTCCTATCCATGAGCATGGAATGTTTTTCCATTTGTT... | TCTATTCTGTTCCATTGGTTTATGTGTCTGCTTTTGTAAAGGTGTCATGCTGTTTTGGTTACTATAGTCTTGTAGTATAGATTGAAATTGGGTAATGTGATGCCTCCAGCTTTGTTCTTTTAGCTTAGGATTGCCTTGACTACTCAAGCTCTTTTTTCATTTCATATGAATTTTTAAATAGTTTTTTCTAGTTCTGTGAAGAGTGTCATTGGTAGTTTGATAGGAACAGCATTGAATCTGTAAATTGCTTTGGACAGAATGGCCCTTTTAATGATATTGATTCGTCCTATCCATGAGCATGGAATGTTTTTCCATTTGTT... | pathogenic | 137,731 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome position 99384317 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cohen_syndrome'] | AGCTTTGTTCTTTTAGCTTAGGATTGCCTTGACTACTCAAGCTCTTTTTTCATTTCATATGAATTTTTAAATAGTTTTTTCTAGTTCTGTGAAGAGTGTCATTGGTAGTTTGATAGGAACAGCATTGAATCTGTAAATTGCTTTGGACAGAATGGCCCTTTTAATGATATTGATTCGTCCTATCCATGAGCATGGAATGTTTTTCCATTTGTTTCTGTCATCTCTTTGAGCATGTTTTATAGTTCTCATTGTAGGGATCTTTCACCTCCCTGGTTAACTGTCTTCCTAAGAATTTGATTCTTTTTTTGGCAAATGTGAAT... | AGCTTTGTTCTTTTAGCTTAGGATTGCCTTGACTACTCAAGCTCTTTTTTCATTTCATATGAATTTTTAAATAGTTTTTTCTAGTTCTGTGAAGAGTGTCATTGGTAGTTTGATAGGAACAGCATTGAATCTGTAAATTGCTTTGGACAGAATGGCCCTTTTAATGATATTGATTCGTCCTATCCATGAGCATGGAATGTTTTTCCATTTGTTTCTGTCATCTCTTTGAGCATGTTTTATAGTTCTCATTGTAGGGATCTTTCACCTCCCTGGTTAACTGTCTTCCTAAGAATTTGATTCTTTTTTTGGCAAATGTGAAT... | pathogenic | 137,736 |
Gene VPS13B (vacuolar protein sorting 13 homolog B) variant at chromosome 8, position 99391647—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cohen_syndrome'] | TACTATATAGGACGAAAGTAGATCATTCTTGAAGGTCTTCATGTTGAATAGTAGACTGAGGAGGAGGAAGAGGAGGGGTTCGTCTTGTCTCAGAAGTGGCAGAGGTGGAAGAAAATCCACATGTAAGTGAACTTATGTGGTTCAAACTTATATTATTCAAGGGCCAAGTGTATATTAATTTTAATCCTGAACTTGGTTGTACCTTTTTAGAGTTTGGATTGTATTCCAGGAATATAAATGGACAAAAATTCAAAGGATTATGGAGTCACTAAATATTAGAGTATAAGAGGTTTTCTAGTCCACCCCCCCTCCTTATGTTT... | TACTATATAGGACGAAAGTAGATCATTCTTGAAGGTCTTCATGTTGAATAGTAGACTGAGGAGGAGGAAGAGGAGGGGTTCGTCTTGTCTCAGAAGTGGCAGAGGTGGAAGAAAATCCACATGTAAGTGAACTTATGTGGTTCAAACTTATATTATTCAAGGGCCAAGTGTATATTAATTTTAATCCTGAACTTGGTTGTACCTTTTTAGAGTTTGGATTGTATTCCAGGAATATAAATGGACAAAAATTCAAAGGATTATGGAGTCACTAAATATTAGAGTATAAGAGGTTTTCTAGTCCACCCCCCCTCCTTATGTTT... | pathogenic | 137,739 |
Variant in VPS13B (vacuolar protein sorting 13 homolog B), chromosome 8, position 99431661—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cohen_syndrome'] | TTTGCTTTCTCTTGTACTATACATCTAATCCATCAGTAAGTCTTATTGGTTATGTCTTTGAAATGGATACAGCATTTTACCACTTCTTGCCACCTCGTTGCTTCTGCTGTCTCTTACAACCTGTCTTCCTTTTTCAACACTGGATACATGTAGTAAATGTTTTGCACAGTAGCCAGAGAAGTTCTTTCAAAACACATATTCAACAATGTCATGACTATATTCAGAATCTGTTATTCTGTCCCAGTTCCCTCAAGTAAAAACCATCTCCTTACTATGACCTACATGAGCCCTGTATGACCTGGTCCCTATATATAGCTCTA... | TTTGCTTTCTCTTGTACTATACATCTAATCCATCAGTAAGTCTTATTGGTTATGTCTTTGAAATGGATACAGCATTTTACCACTTCTTGCCACCTCGTTGCTTCTGCTGTCTCTTACAACCTGTCTTCCTTTTTCAACACTGGATACATGTAGTAAATGTTTTGCACAGTAGCCAGAGAAGTTCTTTCAAAACACATATTCAACAATGTCATGACTATATTCAGAATCTGTTATTCTGTCCCAGTTCCCTCAAGTAAAAACCATCTCCTTACTATGACCTACATGAGCCCTGTATGACCTGGTCCCTATATATAGCTCTA... | pathogenic | 137,747 |
The mutation impacting VPS13B (vacuolar protein sorting 13 homolog B) on chromosome 8 at position 99442423: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cohen_syndrome', 'Inborn_genetic_diseases', 'VPS13B-related_disorder'] | GTCAGATCCTTACATTAATTCAGAATTTACTGCTGCAGATTTATATTCAGTAATATAAATCACTCAACATTTTACATTAAAACCACAATTTTATACATACAGTTTAACAGTTATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTG... | GTCAGATCCTTACATTAATTCAGAATTTACTGCTGCAGATTTATATTCAGTAATATAAATCACTCAACATTTTACATTAAAACCACAATTTTATACATACAGTTTAACAGTTATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTG... | pathogenic | 137,749 |
Regarding the variant found on chromosome 8 at position 99442428 in gene VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cohen_syndrome'] | ATCCTTACATTAATTCAGAATTTACTGCTGCAGATTTATATTCAGTAATATAAATCACTCAACATTTTACATTAAAACCACAATTTTATACATACAGTTTAACAGTTATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTGATGAA... | ATCCTTACATTAATTCAGAATTTACTGCTGCAGATTTATATTCAGTAATATAAATCACTCAACATTTTACATTAAAACCACAATTTTATACATACAGTTTAACAGTTATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTGATGAA... | pathogenic | 137,750 |
Does the variant impacting VPS13B (vacuolar protein sorting 13 homolog B) on chromosome 8, position 99442535, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cohen_syndrome'] | ATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTGATGAAATAATTGATTTTTAAATTAGTGAAATTAATGTTTTTGATTTTGGAAATTTTGGCATGATTTGAATTTTTTCCTAAGGATATGTATGCATGTGGTTGTGTATGGTAGC... | ATTTTAAAAGTGTAAAAAGATTTATGTGATAGCTTTAGTATATATAATAGATAAAACATAATAATTTTGAGTAATTTTAATTATATGATTCTTATCATTAAAGGAACTCTCACAACATATATTTTAGAAAGTTTATTTTAGAGTTGTTATGTATCTGATGCTACTATACTGTTGATTCTGTTTATGTTGCTCACATTGTTTACACTTGATGAAATAATTGATTTTTAAATTAGTGAAATTAATGTTTTTGATTTTGGAAATTTTGGCATGATTTGAATTTTTTCCTAAGGATATGTATGCATGTGGTTGTGTATGGTAGC... | pathogenic | 137,753 |
Assess the variant on chromosome 8, position 99467461, impacting VPS13B (vacuolar protein sorting 13 homolog B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cohen_syndrome'] | TTTTTTTTTAGGAGTTAGGGTATGATATGCTCAATTTCAATTTCCTAATCTGATTCCAAAGAAGACGCAGAAATATAACTGTGATAGTACCAATGTTATTTGGGATTTTTAAAAATTTAACAAATTTTAATCTGGTCCCCTTCCATCCAGCATAACCACCATTTAGCATTTCTTGGATACAATAGGATTTGAAAAAATATATATAGCTCACTACCAGCTTTAAAATATATAATCCGAACTCAGTCCAAAATATTTTAAGACAAATTTGGCAGAGCCTTTATTTTTTAAATAGCATGGAATTTGATGTAGGTTTTAAAATA... | TTTTTTTTTAGGAGTTAGGGTATGATATGCTCAATTTCAATTTCCTAATCTGATTCCAAAGAAGACGCAGAAATATAACTGTGATAGTACCAATGTTATTTGGGATTTTTAAAAATTTAACAAATTTTAATCTGGTCCCCTTCCATCCAGCATAACCACCATTTAGCATTTCTTGGATACAATAGGATTTGAAAAAATATATATAGCTCACTACCAGCTTTAAAATATATAATCCGAACTCAGTCCAAAATATTTTAAGACAAATTTGGCAGAGCCTTTATTTTTTAAATAGCATGGAATTTGATGTAGGTTTTAAAATA... | pathogenic | 137,758 |
The genetic variant at chromosome 8, position 99481712, affecting gene VPS13B (vacuolar protein sorting 13 homolog B): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cohen_syndrome'] | TCTTAGCCTAGCTTCTTTCATTCTGCATAATTATTTTCAGATTAATTCACATTGTTGCATGCATCAATAGTTTATTTCTTTTTATGGCTAAACAGCATCCTGTCATGTGAATGTACTTCAATTTGTTAACTACCTGTCAATGTATATTTGGGATTTTCTCCAATTTTTGCCTATTACAAATAATGCTGCCATGAACATTTGTGTACACATCTTTGTATGGACATAGGCTTCATTTTTCTTAGGAAACTACTTAGGAGTGGAATAGCTGGATCATATACGGTAGGTATATGCTCTTTTTAAAAACTGTCAAATCGTATTCT... | TCTTAGCCTAGCTTCTTTCATTCTGCATAATTATTTTCAGATTAATTCACATTGTTGCATGCATCAATAGTTTATTTCTTTTTATGGCTAAACAGCATCCTGTCATGTGAATGTACTTCAATTTGTTAACTACCTGTCAATGTATATTTGGGATTTTCTCCAATTTTTGCCTATTACAAATAATGCTGCCATGAACATTTGTGTACACATCTTTGTATGGACATAGGCTTCATTTTTCTTAGGAAACTACTTAGGAGTGGAATAGCTGGATCATATACGGTAGGTATATGCTCTTTTTAAAAACTGTCAAATCGTATTCT... | pathogenic | 137,768 |
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