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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 11, position 5226771, impacting HBB: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Beta_zero_thalassemia', 'beta_Thalassemia'] | AAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGC... | AAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGC... | pathogenic | 171,356 |
Is the variant located on chromosome 11 at position 5226779, gene HBB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hemoglobinopathy', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | TGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAA... | TGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAA... | pathogenic | 171,361 |
Gene HBB variant at chromosome 11, position 5226781—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Beta_zero_thalassemia', 'beta_Thalassemia'] | AGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAAC... | AGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAAC... | pathogenic | 171,362 |
Chromosome 11, position 5226796, gene HBB: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Inborn_genetic_diseases', 'Malaria,_susceptibility_to', 'beta_Thalassemia', 'likely other unspecified diseases'] | TCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAA... | TCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAA... | pathogenic | 171,365 |
Clinical classification of chromosome 11, position 5226936, gene HBB: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hemoglobinopathy', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | GTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAA... | GTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAA... | pathogenic | 171,389 |
A mutation at chromosome position 5226947 on chromosome 11 in gene HBB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['beta_Thalassemia'] | CTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGC... | CTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGC... | pathogenic | 171,396 |
For chromosome 11, position 5226957, gene HBB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['.', 'beta_Thalassemia'] | AGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAA... | AGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAA... | pathogenic | 171,398 |
Mutation at chromosome 11, position 5226970, within HBB: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hemoglobinopathy', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malar... | CTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAG... | CTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAG... | pathogenic | 171,402 |
A genetic variant on chromosome 11, position 5226975, affects the gene HBB. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'beta_Thalassemia'] | AGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCT... | AGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCT... | pathogenic | 171,406 |
Variant in gene HBB, located at chromosome 11 position 5226976: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Beta_zero_thalassemia', 'Hemoglobinopathy', 'beta_Thalassemia'] | GTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTA... | GTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTA... | pathogenic | 171,407 |
Clinical classification of chromosome 11, position 5226985, gene HBB: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Beta_zero_thalassemia', 'Hemoglobinopathy', 'beta_Thalassemia'] | GCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCC... | GCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCC... | pathogenic | 171,409 |
Is the chromosome 11, position 5226991 variant in HBB clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['beta_Thalassemia'] | AAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCT... | AAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCT... | pathogenic | 171,411 |
Regarding the variant found on chromosome 11 at position 5226994 in gene HBB: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_t... | AAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAG... | AAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAG... | pathogenic | 171,412 |
Clinical classification of chromosome 11, position 5226995, gene HBB: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | AGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGG... | AGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGG... | pathogenic | 171,414 |
A genetic alteration at chromosome 11, position 5227001, in gene HBB—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | CACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAA... | CACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAA... | pathogenic | 171,418 |
Gene HBB variant at chromosome position 5227003 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | CAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATA... | CAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATA... | pathogenic | 171,421 |
Gene mutation in HBB at chromosome 11, position 5227013—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia'] | AAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGC... | AAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGC... | pathogenic | 171,423 |
Is the chromosome 11, position 6390601 variant in SMPD1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TAATACCGACTTCCAAATTTGTTGTGAGGATTAACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGC... | TAATACCGACTTCCAAATTTGTTGTGAGGATTAACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGC... | pathogenic | 171,486 |
For chromosome 11, position 6390605, gene SMPD1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | ACCGACTTCCAAATTTGTTGTGAGGATTAACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACT... | ACCGACTTCCAAATTTGTTGTGAGGATTAACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACT... | pathogenic | 171,487 |
Regarding the variant at chromosome 11 and position 6390633, affecting gene SMPD1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | AACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAA... | AACGTAAGGCAGAGTCCTCAGAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAA... | pathogenic | 171,489 |
Considering the variant on chromosome 11, location 6390653, involving gene SMPD1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAG... | GAAAAGTACCTACAGAGGGTTATTCGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAG... | pathogenic | 171,491 |
Assess the variant on chromosome 11, position 6390677, impacting SMPD1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | CGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTT... | CGGGCCAAGGGCCAAGGTTGAGGACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTT... | pathogenic | 171,493 |
Determine if the mutation at chromosome 11, position 6390700 in gene SMPD1 (sphingomyelin phosphodiesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | benign | 171,497 |
Variant in gene SMPD1 (sphingomyelin phosphodiesterase 1), located at chromosome 11 position 6390700: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | benign | 171,498 |
Benign or pathogenic: chromosome 11, position 6390700, gene SMPD1 (sphingomyelin phosphodiesterase 1) variant? Disease(s) if pathogenic? | benign | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | benign | 171,499 |
Is the genetic mutation found on chromosome 11 at position 6390700, within the gene SMPD1 (sphingomyelin phosphodiesterase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | ACTGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAA... | benign | 171,500 |
A genetic alteration at chromosome 11, position 6390702, in gene SMPD1 (sphingomyelin phosphodiesterase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATT... | TGCGACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATT... | pathogenic | 171,501 |
Mutation at chromosome 11, position 6390705, within SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | benign | 171,503 |
Variant chromosome 11, position 6390705, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? Disease(s)? | benign | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | benign | 171,504 |
Evaluate the clinical significance of the mutation at chromosome 11, position 6390705 in gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'SMPD1-related_disorder', 'Sphingomyelin/cholesterol_lipidosis'] | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | pathogenic | 171,505 |
Considering the variant on chromosome 11, location 6390705, involving gene SMPD1 (sphingomyelin phosphodiesterase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | GACCCAGGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAA... | benign | 171,506 |
Determine if the mutation at chromosome 11, position 6390711 in gene SMPD1 (sphingomyelin phosphodiesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A'] | GGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGC... | GGACACACTTGCAAGTTGTCTTGGGGGAGCACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGC... | pathogenic | 171,507 |
Located at chromosome 11 position 6390741, the variant affecting gene SMPD1 (sphingomyelin phosphodiesterase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | ACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTT... | ACTCTGGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTT... | pathogenic | 171,508 |
Variant in gene SMPD1 (sphingomyelin phosphodiesterase 1), located at chromosome 11 position 6390746: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTT... | GGACAACAAAAGAGAGGCTCATATTTTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTT... | pathogenic | 171,509 |
Is the genetic change at chromosome 11, position 6390771, within gene SMPD1 (sphingomyelin phosphodiesterase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTTTGTTTTTCATAGTACATAATCTTAA... | TTCAAAGAAAAAAAGATGAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTTTGTTTTTCATAGTACATAATCTTAA... | pathogenic | 171,511 |
For chromosome 11, position 6390788, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | GAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTTTGTTTTTCATAGTACATAATCTTAAAAATGCATGCTAATTAT... | GAATTAGGAGAGGAAATGAATACAAAAGTTGTTCATCAGGAATTCTCATTGTTTACAGAAATAACACTGGTTATACATTGTTTAGCGCTTGGCTATACATTGTTGAACTATAAGGTGTATGGCATTTAATGGCTACTTGGCATAGCAAGTGGTTTCAAGAGATAATTACTTAGCTCAAAGAAGAGTGAGAGTGACTGTTGCTACATTTTAAATGCCTGTCTGGGCCTGATAATTTAAAGGGGCTCATCTTCCTTAGATAAAAAGGTTTTGTTTTGTTTTGTTTTTCATAGTACATAATCTTAAAAATGCATGCTAATTAT... | pathogenic | 171,514 |
Does the variant on chromosome 11 at location 6391417 affecting gene SMPD1 (sphingomyelin phosphodiesterase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TTAATGTGTCCACGGGGAACCACAGAGTGACTACCCACTTCCCAGACGAGTTCAGAAGCTTAGGTGTCATTCAGGCAAAGGGGGTTGTGGGAGTGAGGGGAAGAGGAATTCTGCTGAGGGAGAAGGAATGGATCAGGGAACAGATTAACTAGCACATTATCATGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTA... | TTAATGTGTCCACGGGGAACCACAGAGTGACTACCCACTTCCCAGACGAGTTCAGAAGCTTAGGTGTCATTCAGGCAAAGGGGGTTGTGGGAGTGAGGGGAAGAGGAATTCTGCTGAGGGAGAAGGAATGGATCAGGGAACAGATTAACTAGCACATTATCATGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTA... | pathogenic | 171,523 |
Does the chromosome 11 mutation at position 6391569 within gene SMPD1 (sphingomyelin phosphodiesterase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Niemann-Pick_disease,_type_A'] | CACATTATCATGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTT... | CACATTATCATGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTT... | pathogenic | 171,530 |
Is the genetic variant on chromosome 11, position 6391579, gene SMPD1 (sphingomyelin phosphodiesterase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | TGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTG... | TGTGAAGGGGTCTGTTCAGGTGTGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTG... | pathogenic | 171,532 |
Mutation found at chromosome 11 position 6391601, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | TGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCC... | TGATTATATTCTTGGTTTTGTAGGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCC... | pathogenic | 171,536 |
A genetic variant on chromosome 11, position 6391623, affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Acid_sphingomyelinase_deficiency', 'Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'likely other unspecified diseases'] | GGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTA... | GGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTA... | pathogenic | 171,538 |
Does the genetic variant at chromosome 11, position 6391623, impacting gene SMPD1 (sphingomyelin phosphodiesterase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | GGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTA... | GGGAGGGGAAGAAAAAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTA... | pathogenic | 171,539 |
Gene SMPD1 (sphingomyelin phosphodiesterase 1) variant at chromosome 11, position 6391637—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | AAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGC... | AAAACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGC... | pathogenic | 171,541 |
Variant at chromosome position 6391640, chromosome 11, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | ACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTAT... | ACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTAT... | pathogenic | 171,542 |
Is the genetic mutation found on chromosome 11 at position 6391640, within the gene SMPD1 (sphingomyelin phosphodiesterase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | ACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTAT... | ACCGTTGTTCCTTTTGATGGGTCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTAT... | pathogenic | 171,543 |
Gene SMPD1 (sphingomyelin phosphodiesterase 1) variant at chromosome position 6391661 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAG... | TCTGGACGCTAGGTAACGGCTTTGGGAGAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAG... | pathogenic | 171,545 |
Clinically, how would you classify the variant at chromosome 11, position 6391688, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTT... | GAGAGGGCGCGGGAGTAGGAAGGCCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTT... | pathogenic | 171,547 |
Variant in SMPD1 (sphingomyelin phosphodiesterase 1), chromosome 11, position 6391711—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | CCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGT... | CCAGACACACCTTAAGGCTTAACTTAGTAAGTCAAACCACCATATTTTGGGTATGGATTTCTGAGCCCCAATATAATAGGTACTTCTTAGGGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGT... | pathogenic | 171,550 |
The mutation impacting SMPD1 (sphingomyelin phosphodiesterase 1) on chromosome 11 at position 6391801: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCA... | GGTTGTTGTGAGAATTGAAGATTATTAATTATAAAGTGCCTGGGTTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCA... | pathogenic | 171,561 |
Is the chromosome 11, position 6391845 variant in SMPD1 (sphingomyelin phosphodiesterase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | TTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCC... | TTGGTGCTTGGCACATCATAAACAACTCCATAAATGCTCGCTTTTACTGTCGTGGATACACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCC... | pathogenic | 171,567 |
Mutation at chromosome 11, position 6391904, within SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... | ACGGAGGTGGGAGACCCAATTGGGTTCCCGCCCATGTTATTGGCCCCCACGGCTATATGGTCTTTACGGCTTCCTAGTCTCTTCACCATCTCTAAGGTTTGTTTCCTCATCTGAATCACAGGTGAGTGATTCTCAGGGTGACTCAAGAGGGCTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGA... | pathogenic | 171,571 |
A genetic variant on chromosome 11, position 6392055, affects the gene SMPD1 (sphingomyelin phosphodiesterase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Acid_sphingomyelinase_deficiency', 'Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | CTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAG... | CTGGTGCCAGTGGCAGAGCATGGGGAATCGAGGGAAGGCGCCTTCCTGTCAGAGGCAACACACCCAGTGGGAGGATCCTGCCCGCCCTGCTCTCTCCTACCTCCCCTTCCCGGGCTAAACGCTGGGGTCGGTCTGGCAGCTATTCCGGGAATCTGAGCGCGGATTCTGACAAAGGAGACGTCTTCCACCGACCACATCACATGGAGCTCCAAAGCACGAGCACGGCCTCCCGCGGCTGTGACCTCAAGGCGGAGCCCCTGGTGACCTCAGGGAGAGTCCCCACCCCCGCAGCCCGTGCGCCCGGGGCAGGGCGGGGGCAG... | pathogenic | 171,580 |
Is the variant located on chromosome 11 at position 6393219, gene SMPD1 (sphingomyelin phosphodiesterase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGA... | GCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGA... | pathogenic | 171,589 |
A genetic variant at chromosome 11, position 6393219, affecting gene SMPD1 (sphingomyelin phosphodiesterase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGA... | GCCACAGGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGA... | pathogenic | 171,590 |
Variant in SMPD1 (sphingomyelin phosphodiesterase 1), chromosome 11, position 6393225—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACAT... | GGCCGCTGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACAT... | pathogenic | 171,591 |
Regarding the variant found on chromosome 11 at position 6393231 in gene SMPD1 (sphingomyelin phosphodiesterase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGA... | TGAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGA... | pathogenic | 171,592 |
Gene mutation in SMPD1 (sphingomyelin phosphodiesterase 1) at chromosome 11, position 6393232—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAG... | GAGCTAAAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAG... | pathogenic | 171,593 |
Clinical classification of chromosome 11, position 6393238, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | AAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGG... | AAGAAGAAGCGATGGCCTGGTGCTGCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGG... | pathogenic | 171,594 |
A mutation at chromosome position 6393262 on chromosome 11 in gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'SMPD1-related_disorder', 'Sphingomyelin/cholesterol_lipidosis'] | GCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCT... | GCCTGAGTTACAGGGCAATATCTGGAAGGCAAAGGTGTGCACTGAGCTTGGTGCACTGAGTCCTGCCCAGCCCCAGTTTGGAAATGGAGGCCCAAGGGGTGGTGGCCAGGGGTTGGCCTGGTTCCTCTGCTCTGCCTCTGATTTCTCACCATGCGCTCCTCCCACTGCAGAAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAGCTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTTGAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCT... | pathogenic | 171,598 |
Does the variant on chromosome 11 at location 6393872 affecting gene SMPD1 (sphingomyelin phosphodiesterase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | CCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCC... | CCTGCCCCTGAGGACCCTGGAGAGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCC... | pathogenic | 171,621 |
Does the chromosome 11 mutation at position 6393934 within gene SMPD1 (sphingomyelin phosphodiesterase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAA... | TGGTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAA... | pathogenic | 171,626 |
Does the variant on chromosome 11 at location 6393936 affecting gene SMPD1 (sphingomyelin phosphodiesterase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | GTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAG... | GTGTACTGGACAGGAGACATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAG... | pathogenic | 171,627 |
Does the chromosome 11 mutation at position 6393972 within gene SMPD1 (sphingomyelin phosphodiesterase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'SMPD1-related_disorder', 'likely other unspecified diseases'] | TGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGAT... | TGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACCGTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCCCGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCAGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGAT... | pathogenic | 171,630 |
Regarding the variant at chromosome 11 and position 6394203, affecting gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | AGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCT... | AGGTACTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCT... | pathogenic | 171,637 |
Variant at chromosome 11, position 6394208, gene SMPD1 (sphingomyelin phosphodiesterase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'Sphingomyelin/cholesterol_lipidosis'] | CTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGG... | CTTATCGTCCGTGGAAACCCAGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGG... | pathogenic | 171,641 |
Does the variant impacting SMPD1 (sphingomyelin phosphodiesterase 1) on chromosome 11, position 6394228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | AGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTT... | AGGAAGGGAAAAGAAAGGTGAATGAAAGTGAAGGGAGAAGGGAACCTGGGGCATTGTCTCTGATTGCTCTAGCATGAGTCCTTAGTGCTCTTCATTTGGCTCCCCTAATCTGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTT... | pathogenic | 171,643 |
Clinically, how would you classify the variant at chromosome 11, position 6394338, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCC... | TGACTCCTCCTTCCCTTTCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCC... | pathogenic | 171,653 |
Does the genetic variant at chromosome 11, position 6394355, impacting gene SMPD1 (sphingomyelin phosphodiesterase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A'] | TCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACC... | TCTACTGTTTTGCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACC... | pathogenic | 171,654 |
Determine if the mutation at chromosome 11, position 6394385 in gene SMPD1 (sphingomyelin phosphodiesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'likely other unspecified diseases'] | TTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCA... | TTTTTTTTTTTTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCA... | pathogenic | 171,655 |
Is the variant located on chromosome 11 at position 6394480, gene SMPD1 (sphingomyelin phosphodiesterase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCC... | TCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCC... | pathogenic | 171,660 |
Does the variant impacting SMPD1 (sphingomyelin phosphodiesterase 1) on chromosome 11, position 6394491, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | AAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGG... | AAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGG... | pathogenic | 171,661 |
Does the variant impacting SMPD1 (sphingomyelin phosphodiesterase 1) on chromosome 11, position 6394494, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B'] | TGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAT... | TGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAT... | pathogenic | 171,663 |
Variant chromosome 11, position 6394525, gene SMPD1 (sphingomyelin phosphodiesterase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Niemann-Pick_disease,_type_A'] | TGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCC... | TGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCC... | pathogenic | 171,666 |
Gene mutation in APBB1 at chromosome 11, position 6394536—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Niemann-Pick_disease,_type_A', 'Niemann-Pick_disease,_type_B', 'SMPD1-related_disorder', 'Sphingomyelin/cholesterol_lipidosis', 'likely other unspecified diseases'] | TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTT... | TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTACAGCCTCCACCTCCTGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCTTTCCAGCCCTCCCTT... | pathogenic | 171,667 |
A genetic alteration at chromosome 11, position 6528537, in gene DNHD1 (dynein heavy chain domain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Male_infertility_with_spermatogenesis_disorder'] | TACTTTTCTACTGCTCATAGAAAACTGGAAATTTTAGCTTTTCTTAACTTTCAAAAGAAGACTTGGTTCAAAATAGTTCTCTAACCTCTAAGTTTCACTTTCTATTGTTTTTCTGTATTAAAAAAAGATGGCTTACTTTCTGAGGTTTTCTGGTTTCCCTCCCCTACCTTCATCTAGACTTTTCCTTTTTCTCTATTGCTGCTCAATCCTTATTCTACTCCCAGCATTTTCTCCATGACGAGCTCTGTCCCAAAAGGGAGCCCTGACTGTTTGGTTTCAAGAGTACACAGGGCATAGATTACTTAAGCTTCTATAGACCT... | TACTTTTCTACTGCTCATAGAAAACTGGAAATTTTAGCTTTTCTTAACTTTCAAAAGAAGACTTGGTTCAAAATAGTTCTCTAACCTCTAAGTTTCACTTTCTATTGTTTTTCTGTATTAAAAAAAGATGGCTTACTTTCTGAGGTTTTCTGGTTTCCCTCCCCTACCTTCATCTAGACTTTTCCTTTTTCTCTATTGCTGCTCAATCCTTATTCTACTCCCAGCATTTTCTCCATGACGAGCTCTGTCCCAAAAGGGAGCCCTGACTGTTTGGTTTCAAGAGTACACAGGGCATAGATTACTTAAGCTTCTATAGACCT... | pathogenic | 171,702 |
Considering the variant on chromosome 11, location 6546665, involving gene DNHD1 (dynein heavy chain domain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTTTCTGAATAAAGTTCTGCATGAGATGAAGATCCAGTTTCCTAATGCTGACCTGGTAGGGAAGGGGGTTGAGGCAGAGAGGGCAAGAAGGGTTCCTGAATAGCAGGGCTCAGCGTGGGAAAGGGGAGCTGCCACTTCATATTGGCCCTCACTTTTATCCTCTCCCTCACCACAGAACTCTCGTTTCAAGGTCATGGATGACCAGTATCGAACCCTGATGCGCATCTCTGTAGCTGACCCCATGGTTCTGTCACTTGTAGTGCCCAGTGCCGAGAGGAGCCCTTACTTCCAAGGCCAGCAGCTGCAACAACTGCTGCAAG... | TTTTCTGAATAAAGTTCTGCATGAGATGAAGATCCAGTTTCCTAATGCTGACCTGGTAGGGAAGGGGGTTGAGGCAGAGAGGGCAAGAAGGGTTCCTGAATAGCAGGGCTCAGCGTGGGAAAGGGGAGCTGCCACTTCATATTGGCCCTCACTTTTATCCTCTCCCTCACCACAGAACTCTCGTTTCAAGGTCATGGATGACCAGTATCGAACCCTGATGCGCATCTCTGTAGCTGACCCCATGGTTCTGTCACTTGTAGTGCCCAGTGCCGAGAGGAGCCCTTACTTCCAAGGCCAGCAGCTGCAACAACTGCTGCAAG... | benign | 171,719 |
Is chromosome 11, position 6566575, gene DNHD1 (dynein heavy chain domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['DNHD1-related_disorder', 'Male_infertility_with_spermatogenesis_disorder'] | CAGCATACCACCAAAGAACCCCCTGCTGGCTACACACTCTCCCTTCAGTATTCTGTCCTTGCTGAGCTCTGAATCGGAGCAGTACCAGTGGGATGGAAACCTGAAGCCACAGGCAAAGTCGGCCCACCTGGCAGGCTTGCTTCTGCGAAGCCCCACACACTACAGTAGTTGCCGTTGGCCTCTGCTGCTTGACCCCAGCAACGAGGCCCTCATCTGGTTGGACCCGCTGCCTCTGGAAGAGAATCGATCTTTTGCGCCAGCCCTCACTGAGGGTAGAGGTAAGCAGGCATAATAAATGCAATGCTTCCGGAGTATCTGAA... | CAGCATACCACCAAAGAACCCCCTGCTGGCTACACACTCTCCCTTCAGTATTCTGTCCTTGCTGAGCTCTGAATCGGAGCAGTACCAGTGGGATGGAAACCTGAAGCCACAGGCAAAGTCGGCCCACCTGGCAGGCTTGCTTCTGCGAAGCCCCACACACTACAGTAGTTGCCGTTGGCCTCTGCTGCTTGACCCCAGCAACGAGGCCCTCATCTGGTTGGACCCGCTGCCTCTGGAAGAGAATCGATCTTTTGCGCCAGCCCTCACTGAGGGTAGAGGTAAGCAGGCATAATAAATGCAATGCTTCCGGAGTATCTGAA... | pathogenic | 171,739 |
Regarding the variant found on chromosome 11 at position 6609918 in gene ILK: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGAAGCTCAGGGGAAGGTCTGAAATGGACAGCTTTGGGAGTTGCTGGCATGAATGAGAATCAAAGTCCTAGAGAGGTAAGCCTTCCCAGAGAGTATGTAATTATCAGTTTTTCAGGAATCAAAACCTTTGCCCCATCCCACCTCCAGCTCAATGACCATTGCCCCTTCCTCAAAGGGACGATCATGGCTTCTCCCCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCTGTGGTTGAGATGTTGATCATGCGGGGGGCACGGATCAATGTAATGAACCGTGGGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGG... | TTGAAGCTCAGGGGAAGGTCTGAAATGGACAGCTTTGGGAGTTGCTGGCATGAATGAGAATCAAAGTCCTAGAGAGGTAAGCCTTCCCAGAGAGTATGTAATTATCAGTTTTTCAGGAATCAAAACCTTTGCCCCATCCCACCTCCAGCTCAATGACCATTGCCCCTTCCTCAAAGGGACGATCATGGCTTCTCCCCCTTGCACTGGGCCTGCCGAGAGGGCCGCTCTGCTGTGGTTGAGATGTTGATCATGCGGGGGGCACGGATCAATGTAATGAACCGTGGGGATGACACCCCCCTGCATCTGGCAGCCAGTCATGG... | benign | 171,809 |
Mutation at chromosome 11, position 6614558, within TPP1 (tripeptidyl peptidase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Juvenile_neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_2'] | CTCAAGACCTGGCTTCGACGTTTATGGCCCTATGTCCCTCGACTACGGGTTGCCTGCCTGTCTGCATCGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACAC... | CTCAAGACCTGGCTTCGACGTTTATGGCCCTATGTCCCTCGACTACGGGTTGCCTGCCTGTCTGCATCGTTTCAAGTTCCCTTATTCAGCCTTTTAAGGATTCATAGTGGATTTGGAAAGCCCCCTCTCTTCTCCGCCAGCTGCCCCGAGAGGTGGGGGCAGCAGTGGGGCGGCACACAGTGCTGCTGTAGGAGGAGGAGGAGTTTCAGCCTGAGTCAACAACATATGCAAAAATCACAACGAATGAGAGGCGTGAGGTTTTCGGTGTAGCAGACATTTAATTCTTATTTGCCAACTCCTGAGCTAGGACCTGGGAACAC... | pathogenic | 171,833 |
Clinical classification of chromosome 11, position 6614868, gene TPP1 (tripeptidyl peptidase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_2'] | CTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCA... | CTGGGAACACAAAGTTAAATAGGACACGATTCTAGTCCTCTAGGCACCAACGGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCA... | pathogenic | 171,840 |
Considering the variant on chromosome 11, location 6614919, involving gene TPP1 (tripeptidyl peptidase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis_2'] | GGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTC... | GGTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTC... | pathogenic | 171,844 |
Considering the variant on chromosome 11, location 6614920, involving gene TPP1 (tripeptidyl peptidase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_2'] | GTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCA... | GTCTTGGAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCA... | pathogenic | 171,845 |
Evaluate the clinical significance of the mutation at chromosome 11, position 6614926 in gene TPP1 (tripeptidyl peptidase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | GAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATA... | GAAAGGAAGGCAGACAAGTAAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATA... | pathogenic | 171,848 |
Classify the chromosome 11 variant at position 6614945 affecting gene TPP1 (tripeptidyl peptidase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | AAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCA... | AAACTGGCCATTTCAATACTACGTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCA... | pathogenic | 171,849 |
Mutation at chromosome 11, position 6614967, within TPP1 (tripeptidyl peptidase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_2'] | GTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAA... | GTGGTCGTTACAATGCTAGAGGTAGGCACAGGGGGCGCAGTGCAAGGGAGGAAGGGCGTTAACATCTGCCACCTACTTCCAGGTGCCAAGCACTGTTATCAACATTATTCCACTTTATTCCCTGGTGATTATGAAAGGCAGGTATTGATATTCACACTTAACAGACGAGGAAACAGCCTCAGGGAGATAAGCTTACTTGACCCAGTCTCTCTCCTAGTCCATATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAA... | pathogenic | 171,851 |
Benign or pathogenic: chromosome 11, position 6615188, gene TPP1 (tripeptidyl peptidase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | TATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAA... | TATCAGAACCAAGATTCAAACAGGTTTTGTTTAGAAAATCTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAA... | pathogenic | 171,858 |
Is the variant located on chromosome 11 at position 6615227, gene TPP1 (tripeptidyl peptidase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | CTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTT... | CTAGGATTTTTCAGCCATACCAAAATAAAGTAGCCTCAGGGAATCAAAACATTCACGAAAGAAGGTGACTTCTGAACTGAGTCTTGCAAGAATTCTGGAAATTAACCTGGCAGTTGTATCAGGGGTGGTAAGGGGACGGAACAGCTTGAGCAAGAGTGAGAGTTCCTTGGGGTTTGGGGAGGGAGGAGGAAAAATGATTTTTTACTTAAGAACAAATAGCAAGGAAGGTTTGTGAGCTATGATTGGGGGCTGGAGGGGAAAGCCTGAATTCTATCCAGTAATCCTTGAAGGGTTTTCATCCAAGTGGCCTGATGGGATTT... | pathogenic | 171,864 |
Is chromosome 11, position 6616063, gene TPP1 (tripeptidyl peptidase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | TGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGG... | TGAGAGAGGAAGACAAGAGTAGTCAGAGAAGTTAAGACCTGGAAGCTAAGTAAGGAGAGGGAGTGGGCAACTATGATGGAAAGGCCATAAAGCAAAGATTGAGAAGTATGCACTGGAGGCCATTGTTTCTGGATGTCAGGGTAGGAAAGAGTAAACGGTGACAGTAGAGGTCTCCTTGCAGTGAATTGGGGAATGAATATCAAGTGAAATAGTGCACAGAGTCTGTATACAACCCTTTGGAAAAGCCTGATTGAAAAGAGAAAGATGAGATGCGGAGGGAGAGGCATTCAAAAAATGCTAGTTACAGCATCTTATTGAGG... | pathogenic | 171,882 |
Variant on chromosome 11, at position 6616410, affecting TPP1 (tripeptidyl peptidase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | AGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGG... | AGTATGATGGAGCATGGTAGGGTTGGGAGTCAAGTCAAGCTCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGG... | pathogenic | 171,901 |
Gene TPP1 (tripeptidyl peptidase 1) variant at chromosome 11, position 6616450—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_2'] | TCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACT... | TCACAGCATTTCAGGGTTAGGGAGATAAGCTGTCTGCAGCAGTCAATAGTTGAGGGTTCAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACT... | pathogenic | 171,902 |
For chromosome 11, position 6616508, gene TPP1 (tripeptidyl peptidase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATT... | CAGCAGGGCTTCCAACAGGGCAGAATAAGGGACTGAACTGCCAGCTTCAGGGCAGGGGACAAGCCATCTCTCCTGATAGGAAAGGGTCAGGGGTTGAGTAGAGTCTTCAGCAAAGCTGGGAAGTTGGGTGTTCCCCAGCCTGTTACAGGATCCCAGCCAGGACCAGAGCAGAAACCCTGGCCCTCTACCTCTTCATCCAGACAGGACTCATGGCAGCCACGGGTTACCTAGGGAGGAGGCTGGCATCAGATCTGGGCCTACTAGTACCAGTACTTAAAGAGTATATCTCCTCACCCTGTACTCACATTTCAAAGGCTATT... | benign | 171,903 |
Evaluate this variant at chromosome 11, position 6617052, gene TPP1 (tripeptidyl peptidase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_2'] | AGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGC... | AGGTGCAAGTAGAGGTCAGGGGTTCTGAGTGATTGGACTTTTTGGGAGTGATGCTTTAAAGTATCAGACATCTCTAAGGAGTCAGGGGTTCTAGGTGCAAGGTGTTCAAGGTGTTAGGGGGTAAGGGTAGTTCCTGAGTGAGAGTTTGGAGATGGGCTGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAGTGCAGCCACATCTGGGTAGGCACGGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGC... | pathogenic | 171,926 |
A genetic variant on chromosome 11, position 6617305, affects the gene TPP1 (tripeptidyl peptidase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | GGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGA... | GGCCACTGGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGA... | pathogenic | 171,936 |
Chromosome 11, position 6617312, gene TPP1 (tripeptidyl peptidase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | GGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATT... | GGCATTGAAGTAACTGGATGGTGGCAGGTGGGGGCTAGAGCTCAGGAACTTCGTTACAGCTTCCTCCTGAAAGGCATTTTTGAGTGAGTATTGGCATGTGGCCTGCCCAGCAGTCAGCTGAACTGAGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATT... | pathogenic | 171,937 |
Mutation at chromosome 11, position 6617437, within TPP1 (tripeptidyl peptidase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGA... | AGGATCCCCCATCCTCACTCTTACCCTGCATCCATCCACACAAACACACGTACCTGGTATGAAGGCCGTGGGAACACATTGCTGAAGCCACCACCACTGATATAGTCAACAATTTCATTTGTGATGAGGAAAGGTTCCTGGAAGGATGTGCCTCCCACTGTGGTGACATAGGGGCTGAGGGGAGAAGACAGCATTTGGATAGTAGGGGACCCAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGA... | benign | 171,946 |
Clinical significance of chromosome 11, position 6617648, gene TPP1 (tripeptidyl peptidase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | CAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACAT... | CAAGGGGACCTCCAAGATATGTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACAT... | pathogenic | 171,951 |
Gene mutation in TPP1 (tripeptidyl peptidase 1) at chromosome 11, position 6617668—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | GTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGT... | GTGGGGAGGGGTGAGTATAGCCCAGGTCTTGCTGGAGGAACTAGACTCTGTGGGGAAGCATGTATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGT... | pathogenic | 171,952 |
A genetic alteration at chromosome 11, position 6617731, in gene TPP1 (tripeptidyl peptidase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | ATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTT... | ATATGGGATTGACTAAGAGATTTTGAGCCTTCAAGGCATGGCCCGAGGTGACTGTGCACACTTTTCTCTACAGAACACCCACCAAATCTTCCACTAAAATGCCTGGGAACTGACGAAAAGGAACAATGGGAGCTGTATCCCACACAAGAGATTTGGGGCCTGGGACCTGCAGGAAGAAGAGACAGGAGTACAGCAACCAGGGCAGGCAAAGCTTAAGGCTGAACCACAGGAGCACATGGTGGGGTCAAGACAAAGGTTCTACATCATGAGATCACAAGTGAAAGGTGGTGGTTATACCTGAGTGGTAGGCTAGAGTACTT... | pathogenic | 171,958 |
Gene mutation in TPP1 (tripeptidyl peptidase 1) at chromosome 11, position 6618819—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_2'] | CGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTG... | CGGGCTACTGATGCCTGATGTGCAAAGTTGCCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTG... | pathogenic | 171,964 |
Variant on chromosome 11, at position 6618849, affecting TPP1 (tripeptidyl peptidase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_7', 'Neuronal_ceroid_lipofuscinosis_2'] | CCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGG... | CCACCGAAGAGGCGCATGAACTGAGCCAGGTCTGAGTCATGGAAATACTGCTCCAGGAACTATGGAGGGAGTCAGAGCAGAGATCGTGGGTCCGAGGGTGAGTCCCAGGGTGGTAAGGAATTGAGGACACTGTGGGGAGGCTATGAGGACCCTGGGGCTCTTTGCTTGGCTCACCTGGGCACAGGCTTGGCTGTTATTGCTGGTGCCAGAGCCCACGTCTTGTGAGGTCAAGTTGTATCGCTTACGGATCACAGAGGGGGTTACCCCCAGATGCAGGCCTACAGTCCCTGTCACCTGCGGCTCAGGACGTTGCCTCAGGG... | pathogenic | 171,966 |
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