question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Determine if the mutation at chromosome 1, position 169572348 in gene F5 (coagulation factor V) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTACAATTCTTACCTCCTCCCTTATTTGAAATGAAACCTGCATGTGACATTTTGATATTTTGAGGTTTCTCCCCCTTCTTCTTTACATTGCTGAACTTCTGATGCAGTCGTCTAGAAGCCTCATAAGTAGGTGAAGTGGTTGTTCACTATGTCACTGTATGATTTTAAGAACATAGGAGAAACTCCTGTTCCCACTACCTCACCCAGAGTCTTGCCAAATTCACTTTGGAAGAAATCTCAGTGCCACAGTTAATGCTTCATTGTTTTTCCTCAAGCCAAAGATTAAGTGCTAATGCAAGTACTCCTAAGGAAGGTAGTTC... | CTACAATTCTTACCTCCTCCCTTATTTGAAATGAAACCTGCATGTGACATTTTGATATTTTGAGGTTTCTCCCCCTTCTTCTTTACATTGCTGAACTTCTGATGCAGTCGTCTAGAAGCCTCATAAGTAGGTGAAGTGGTTGTTCACTATGTCACTGTATGATTTTAAGAACATAGGAGAAACTCCTGTTCCCACTACCTCACCCAGAGTCTTGCCAAATTCACTTTGGAAGAAATCTCAGTGCCACAGTTAATGCTTCATTGTTTTTCCTCAAGCCAAAGATTAAGTGCTAATGCAAGTACTCCTAAGGAAGGTAGTTC... | benign | 17,623 |
Is the variant located on chromosome 1 at position 170539403, gene GORAB (golgin, RAB6 interacting), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Geroderma_osteodysplastica'] | CTCTTCTCCTTGTGTTGTGGTGGCCAGCAACACTGAATACTGACTGTACAGTCAGCCTAGAGCCTTGAGAGACTAATCAGCAGAACCTCTCTGTTAGCCTTTAGTTGGCACTTGGCATTAATGAAAAATAAACCTTTGTGGTTTAAAACCACTAAGATTTGCCCCTACAGCGTAATCTAGATTTTCCTGATTGAAACAGTTCCCTACATTTAAAAATCAAGATATTTTACATAAAAGTCTAAATTGTAATCATAAAAATCAAAATATCTGGCTATGGTGACCTAAATTTTTTAATGATAGCAATTGACTAAAGGTGACTC... | CTCTTCTCCTTGTGTTGTGGTGGCCAGCAACACTGAATACTGACTGTACAGTCAGCCTAGAGCCTTGAGAGACTAATCAGCAGAACCTCTCTGTTAGCCTTTAGTTGGCACTTGGCATTAATGAAAAATAAACCTTTGTGGTTTAAAACCACTAAGATTTGCCCCTACAGCGTAATCTAGATTTTCCTGATTGAAACAGTTCCCTACATTTAAAAATCAAGATATTTTACATAAAAGTCTAAATTGTAATCATAAAAATCAAAATATCTGGCTATGGTGACCTAAATTTTTTAATGATAGCAATTGACTAAAGGTGACTC... | pathogenic | 17,648 |
Mutation at chromosome 1, position 170539554, within GORAB (golgin, RAB6 interacting): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Geroderma_osteodysplastica'] | CTAAGATTTGCCCCTACAGCGTAATCTAGATTTTCCTGATTGAAACAGTTCCCTACATTTAAAAATCAAGATATTTTACATAAAAGTCTAAATTGTAATCATAAAAATCAAAATATCTGGCTATGGTGACCTAAATTTTTTAATGATAGCAATTGACTAAAGGTGACTCGGAATTTGCCCCCTTTACACTAGACTTACGCTTCTCAGTTCACCACAGTCTCCTTGATATTTGCAGCCCCTAATACAGAGTGTGGGAAGCAATATGTTCTGTGTTTAAGTGGCCTGATTTGCTTATTGTTTATTGTTTAAAATTAGCATTT... | CTAAGATTTGCCCCTACAGCGTAATCTAGATTTTCCTGATTGAAACAGTTCCCTACATTTAAAAATCAAGATATTTTACATAAAAGTCTAAATTGTAATCATAAAAATCAAAATATCTGGCTATGGTGACCTAAATTTTTTAATGATAGCAATTGACTAAAGGTGACTCGGAATTTGCCCCCTTTACACTAGACTTACGCTTCTCAGTTCACCACAGTCTCCTTGATATTTGCAGCCCCTAATACAGAGTGTGGGAAGCAATATGTTCTGTGTTTAAGTGGCCTGATTTGCTTATTGTTTATTGTTTAAAATTAGCATTT... | pathogenic | 17,651 |
Regarding the variant found on chromosome 1 at position 171636250 in gene MYOC (myocilin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glaucoma_of_childhood'] | TTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCAC... | TTGGCTGACAACACATTGATGTGATGGAATCCAAGCTGAACTGGCAAATGAAGTGTTCTACCATTAGGTACAATGGCAACTGAAGAGGGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCAC... | pathogenic | 17,733 |
Mutation at chromosome 1, position 171636337, within MYOC (myocilin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glaucoma_of_childhood'] | GGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCC... | GGAAATTAAGTTTGTTATTAAAAAATAATGCAGCTAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTCTGGAGGCCGAGATGGGAGGATTACTTGAGGCCAGGAGTTTGAGACAAGTTGGTCAACATAGTACAATCCTGTCTCTACAAAAAAATTTAGAAAATAATAATATTGCTATAAGGGCTGAGGATAATGGAGTTATTAATGGGTGTATTAATAACCGTAAAGTCACCGCACTAGCCCTGACTTTTCTTTTCCCCTGGTACATTAATAACTTGAGTTATTAATGTTCTGGAGATGATGGTCGTGATGGTTGCCC... | pathogenic | 17,743 |
Clinical classification of chromosome 1, position 173825449, gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Disease(s) if pathogenic? | benign | CATTGGGGGGTGGGGGGATGGGAGTGAAGAAAGTTCCAGTAGACAATTCTTTAAGAGGTTAAATGACAGCCCTATACCCAAACATGCACCCCCTACTCTAGACAGATGATCACTCTACTGTTCTCCCTGCCTTTTTATTCACCTTATCGCCAATTAAAAACACTTCTCTACTCCCGTTTGTCTCAGTAAATCTTATCCATTTTCCATGTGCCATCTCCTCAGAAGTTTTCCTGAGCTTGGCAGGGCTAGTTCTCTTGACAATTCCACTTGCAGTTGTGGTTCACAGCACACAAGTAAAGCTTTGTTGTTTCTCTTGTGAT... | CATTGGGGGGTGGGGGGATGGGAGTGAAGAAAGTTCCAGTAGACAATTCTTTAAGAGGTTAAATGACAGCCCTATACCCAAACATGCACCCCCTACTCTAGACAGATGATCACTCTACTGTTCTCCCTGCCTTTTTATTCACCTTATCGCCAATTAAAAACACTTCTCTACTCCCGTTTGTCTCAGTAAATCTTATCCATTTTCCATGTGCCATCTCCTCAGAAGTTTTCCTGAGCTTGGCAGGGCTAGTTCTCTTGACAATTCCACTTGCAGTTGTGGTTCACAGCACACAAGTAAAGCTTTGTTGTTTCTCTTGTGAT... | benign | 17,822 |
Regarding the variant at chromosome 1 and position 173826717, affecting gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | AGTTGAAGGGCGCTTGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTT... | AGTTGAAGGGCGCTTGGACCCCAGCGGCGATCTGTGTTTGGGTTCGCGCTCTGGGAGAATTTTGGCTTTGCTCGCCTTCCTCTTTCAGAAGACTCGAAATCGGCCAGCAGGTCTGCGAGATTTGAAACGCGACTGTTACTCCTTGTTTTCCGGTTCTGGCCGCGGGAGCCTCTCGAGAAGCGTGGAAAGAGGAGAAGGGCGTATACCTTGTGACCGCCTCTGGTTGTCTTGGGCTCGCGCCTGGCGCCGCTACGTGGAGTCGCTCTCTCGTCGTCACTTTTGGCTGCCGACTTGTTGAGTAGAAGTGCAGACTGATGCTT... | pathogenic | 17,825 |
Gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) variant at chromosome 1, position 173828312—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGA... | GTTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGA... | benign | 17,829 |
Variant chromosome 1, position 173828312, gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Disease(s)? | pathogenic; ['Abnormal_foot_morphology', 'CNS_demyelination', 'Cerebral_cortical_atrophy', 'Clubfoot', 'Difficulty_walking', 'Dysmetria', 'EMG:_axonal_abnormality', 'Gait_ataxia', 'Gait_imbalance', 'Gout', 'Hypertensive_disorder', 'Impaired_vibration_sensation_in_the_lower_limbs', 'Leukoencephalopathy_with_brain_stem_a... | GTTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGA... | GTTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGA... | pathogenic | 17,830 |
The mutation impacting DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) on chromosome 1 at position 173828313: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGAC... | TTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGAC... | benign | 17,832 |
Does the chromosome 1 mutation at position 173828313 within gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGAC... | TTTTCTAGTGTACAAGTGGCTGTTAAACACTAGATTCATACTAAAGCTAAATAGTTCCTACACCGTCCATTTCTGCAGTTTCTAAAATCCTATTTCATTTGAGGAAGAAATGTGCAATATTAAGAATTGGGTAATTAGGATTTTAGGTCAATGCAAATGCTAGAAGATCAAAAAAATTTTGATTTCCTAACACAAGACAGAAATTTACATTCAGTTATTCACTTGGCTTTTGACACATTTGCAGGTAAATTTAATAGTGAATGAATTAAATTACATACTCTGACTTATTTTATTTTATAAATTTCCCCTGTAGCCCTGAC... | benign | 17,833 |
Does the genetic variant at chromosome 1, position 173833440, impacting gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | CACAGACATGTATGTTTTATACTATACACTATAAGGACTTTGCACATTTTACATATGTAAATAAATGCATAGATTCTACAAATGTGTATTTTGTGTATATCCTGATGAGTAATTTTTAAAACCCTTCCTTCTCACTCTCCAAGAAAATGCCAACAGGTGAGATTGAAATCAAAGTTAAAACAGCTGAGCTTCTGAATGCCTGCAAGAAGCTGCCCTTTGAAATTAAGAACTTCGTGAAGGTACCAACCTCTGTTATTAATAAAATAGAGTATCTAGAAAATGTTGATGACTAGTCAAGTATTTTCAGAGTTTTTTAAAGA... | CACAGACATGTATGTTTTATACTATACACTATAAGGACTTTGCACATTTTACATATGTAAATAAATGCATAGATTCTACAAATGTGTATTTTGTGTATATCCTGATGAGTAATTTTTAAAACCCTTCCTTCTCACTCTCCAAGAAAATGCCAACAGGTGAGATTGAAATCAAAGTTAAAACAGCTGAGCTTCTGAATGCCTGCAAGAAGCTGCCCTTTGAAATTAAGAACTTCGTGAAGGTACCAACCTCTGTTATTAATAAAATAGAGTATCTAGAAAATGTTGATGACTAGTCAAGTATTTTCAGAGTTTTTTAAAGA... | pathogenic | 17,848 |
Variant in DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), chromosome 1, position 173836919—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGGATCCAAGCGATTCTCATGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAACTTTTGTATTTACTTTAGTAGAGACGGAGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACACCTGACCTGAAATGATCCGCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTACTCAGTCTCATTTGAGTTTTATAGATGTAATCATTAATAAATTGGTATTTTTTGTTTTTGTTTTTGTTTTTTTAGACAGTCTCGTTCTGTCACCTGAATCCGCCTACTGGATTCAA... | TGGATCCAAGCGATTCTCATGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAACTTTTGTATTTACTTTAGTAGAGACGGAGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACACCTGACCTGAAATGATCCGCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTTACTCAGTCTCATTTGAGTTTTATAGATGTAATCATTAATAAATTGGTATTTTTTGTTTTTGTTTTTGTTTTTTTAGACAGTCTCGTTCTGTCACCTGAATCCGCCTACTGGATTCAA... | benign | 17,853 |
Gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) variant at chromosome 1, position 173839470—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | TTTTTGAGGAAATATAGAAAACTTTGTGAGCTAGATCGTTGAGGACAGAGCTACATTTCAGCAGGTGAAGATGAGAGTTGGAATGGCATAGCACAGAAAGTCTCAAGTGTATCCATGGCACAGTAAAGATTTCACTTTGGCCAAAGCAAAAGAGTATATATGAAGAAGCATGGGCTAAAAAAAATGTTTTAATAAAAAGAGCTGGCATGGACTGATTTGCATGCTAGTCTAAATACATGAATATCCAGAGGTGCCAGTGTTTATTTTGAAAACAATATATAGAATAGTTAACTTCTCATAGGTCAGCTGTATGTCTAATT... | TTTTTGAGGAAATATAGAAAACTTTGTGAGCTAGATCGTTGAGGACAGAGCTACATTTCAGCAGGTGAAGATGAGAGTTGGAATGGCATAGCACAGAAAGTCTCAAGTGTATCCATGGCACAGTAAAGATTTCACTTTGGCCAAAGCAAAAGAGTATATATGAAGAAGCATGGGCTAAAAAAAATGTTTTAATAAAAAGAGCTGGCATGGACTGATTTGCATGCTAGTCTAAATACATGAATATCCAGAGGTGCCAGTGTTTATTTTGAAAACAATATATAGAATAGTTAACTTCTCATAGGTCAGCTGTATGTCTAATT... | pathogenic | 17,862 |
Determine if the mutation at chromosome 1, position 173840925 in gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | AGATGCGTGCCACCATGCCCAGCTGATTTTTTGTGTTTTTATTAGAGATGGGGTTTGACCATGTTGGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCGTGAGCCACCACGCCTGGCCAATAGCATTTTAATCATGTGTTGAAGTGAAAAAATTATGAGCTTTGGAGTTGGACAGACCTGGGATCAGATGTAGCTTCGCTGCTTACTAATTGCACATACGCAAATAAGTAACTTAGTTCTCTGAGCCTTCATGAAATGGTTGTGGGAACTAAGCAAGTTA... | AGATGCGTGCCACCATGCCCAGCTGATTTTTTGTGTTTTTATTAGAGATGGGGTTTGACCATGTTGGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCGTGAGCCACCACGCCTGGCCAATAGCATTTTAATCATGTGTTGAAGTGAAAAAATTATGAGCTTTGGAGTTGGACAGACCTGGGATCAGATGTAGCTTCGCTGCTTACTAATTGCACATACGCAAATAAGTAACTTAGTTCTCTGAGCCTTCATGAAATGGTTGTGGGAACTAAGCAAGTTA... | pathogenic | 17,865 |
Evaluate the clinical significance of the mutation at chromosome 1, position 173840937 in gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | CCATGCCCAGCTGATTTTTTGTGTTTTTATTAGAGATGGGGTTTGACCATGTTGGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCGTGAGCCACCACGCCTGGCCAATAGCATTTTAATCATGTGTTGAAGTGAAAAAATTATGAGCTTTGGAGTTGGACAGACCTGGGATCAGATGTAGCTTCGCTGCTTACTAATTGCACATACGCAAATAAGTAACTTAGTTCTCTGAGCCTTCATGAAATGGTTGTGGGAACTAAGCAAGTTAATGTATGTAAGG... | CCATGCCCAGCTGATTTTTTGTGTTTTTATTAGAGATGGGGTTTGACCATGTTGGCCAGGATGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCGTGAGCCACCACGCCTGGCCAATAGCATTTTAATCATGTGTTGAAGTGAAAAAATTATGAGCTTTGGAGTTGGACAGACCTGGGATCAGATGTAGCTTCGCTGCTTACTAATTGCACATACGCAAATAAGTAACTTAGTTCTCTGAGCCTTCATGAAATGGTTGTGGGAACTAAGCAAGTTAATGTATGTAAGG... | pathogenic | 17,866 |
Is the variant located on chromosome 1 at position 173845271, gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | CATACAAAGAAAATTTTTTCTTAGGTTCACAATGCTTAAAAGAGAGAGAGAATAAGGGCCAAGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCACGTCTGTACTAAAAATGTAAAAAATTAGCCAGGTGTGGTTGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCCGTGATCTGAGATTGCCTCACTGCACTCCAGCCTGGGCAACA... | CATACAAAGAAAATTTTTTCTTAGGTTCACAATGCTTAAAAGAGAGAGAGAATAAGGGCCAAGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCACGTCTGTACTAAAAATGTAAAAAATTAGCCAGGTGTGGTTGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCCGTGATCTGAGATTGCCTCACTGCACTCCAGCCTGGGCAACA... | pathogenic | 17,870 |
Variant chromosome 1, position 173853398, gene DARS2 (aspartyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Disease(s)? | pathogenic; ['Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome'] | AGGGGTAGTGAAATTAGTCATATAACCATGAAAAAATATTTTCAGTGTCAAGATTTCACAAATGAAGAAAATTAGGAGTCTCAAATTTTTATACATCATGCATTCGTAAATTGTGGAGGGACGGATCAGACCACTGGCGAGCTGGAGGGCTGGCAGACACCCCTGGACCAACTTGGTCAAAGTGGGACCCTTTTTCCTCAAGAACAGCAGCTGTAGGTGATGAGTGCCATCATGCACTGGCTGAGTCATGATTCTTCAGGGGATATGGAAGACTGAATTAGCTTTAGGGATCTTTGTAAAATATAGAAAAGTATAGTACA... | AGGGGTAGTGAAATTAGTCATATAACCATGAAAAAATATTTTCAGTGTCAAGATTTCACAAATGAAGAAAATTAGGAGTCTCAAATTTTTATACATCATGCATTCGTAAATTGTGGAGGGACGGATCAGACCACTGGCGAGCTGGAGGGCTGGCAGACACCCCTGGACCAACTTGGTCAAAGTGGGACCCTTTTTCCTCAAGAACAGCAGCTGTAGGTGATGAGTGCCATCATGCACTGGCTGAGTCATGATTCTTCAGGGGATATGGAAGACTGAATTAGCTTTAGGGATCTTTGTAAAATATAGAAAAGTATAGTACA... | pathogenic | 17,873 |
Does the variant on chromosome 1 at location 173909873 affecting gene SERPINC1 (serpin family C member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_antithrombin_deficiency'] | ACAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGAAGACTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGCATCTCAAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGTACTTTGGGCTTGTTCAGCATGGCTCCTGATAATTCATTCTCAGGCTTCAGCTTTTTGTGGGAGAGAGAAACGGCAAGACTCTGTTCTTACAGAAAAAACTCACTCCATCCAG... | ACAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGAAGACTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGCATCTCAAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGTACTTTGGGCTTGTTCAGCATGGCTCCTGATAATTCATTCTCAGGCTTCAGCTTTTTGTGGGAGAGAGAAACGGCAAGACTCTGTTCTTACAGAAAAAACTCACTCCATCCAG... | pathogenic | 17,912 |
Gene SERPINC1 (serpin family C member 1) variant at chromosome position 173911958 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_antithrombin_deficiency'] | GTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAA... | GTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAA... | pathogenic | 17,926 |
A genetic variant at chromosome 1, position 173911974, affecting gene SERPINC1 (serpin family C member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_antithrombin_deficiency'] | TTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCAC... | TTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCAC... | pathogenic | 17,928 |
Is the chromosome 1, position 173912025 variant in SERPINC1 (serpin family C member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGGAACAGTAAATGCATTTTACTAGGTGAAAGAAGCCAATC... | TCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGGAACAGTAAATGCATTTTACTAGGTGAAAGAAGCCAATC... | benign | 17,931 |
Chromosome 1, position 173914677, gene SERPINC1 (serpin family C member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_antithrombin_deficiency'] | TTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTG... | TTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTG... | pathogenic | 17,935 |
Considering the genetic mutation at chromosome 1, position 173914683, impacting SERPINC1 (serpin family C member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['SERPINC1-related_disorder'] | TTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGC... | TTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGC... | pathogenic | 17,936 |
Located at chromosome 1 position 179551292, the variant affecting gene NPHS2—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Nephrotic_syndrome,_type_2', 'Steroid-resistant_nephrotic_syndrome'] | CCAGTTTCTGAAGAATTTTACCTTTGACTATCCACTATACTCTTTCACCTAAACACAGTTTTATAGCAACTTATCGCTATGATTTCCTTCTTATCAAGCCCACCAACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAG... | CCAGTTTCTGAAGAATTTTACCTTTGACTATCCACTATACTCTTTCACCTAAACACAGTTTTATAGCAACTTATCGCTATGATTTCCTTCTTATCAAGCCCACCAACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAG... | pathogenic | 18,011 |
Evaluate this variant at chromosome 1, position 179551376, gene NPHS2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Nephrotic_syndrome,_type_2', 'Steroid-resistant_nephrotic_syndrome'] | TCCTTCTTATCAAGCCCACCAACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTT... | TCCTTCTTATCAAGCCCACCAACTGCAACAGTTGGTTAATTTGAAAGACAACGCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTT... | pathogenic | 18,014 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 179551428, gene NPHS2: what disease(s) if pathogenic? | pathogenic; ['Nephrotic_syndrome,_type_2'] | GCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTTCATTACACATGCCAAAATTTGCTATCCTGAGATCAGGAACCGTCATATATGG... | GCATGCCAGCAAGCAGACCTGAAAGCCCTCTGGCATGCCAATGAGAAATTTAAATATTGACCTGTGCCAGACATCAGAGGAAACCAAACAATAGGAGATACCATAGGCACTCCCCAGATATGCAAGCAAAATCTGCCTTTGACAAAAAACCAGTGTTATAAGGAAGTATGAAGAGTCATAAAAGCCATTTTTACCCTGGTGTTCACTTCTGCTTGTTCTGCTTTTGGCTTCTGTTATGCCTGACCCAGCATGACTCTACCTTCTTCTTCATTACACATGCCAAAATTTGCTATCCTGAGATCAGGAACCGTCATATATGG... | pathogenic | 18,016 |
Variant at chromosome position 179552619, chromosome 1, gene NPHS2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Chronic_kidney_disease', 'Focal_segmental_glomerulosclerosis', 'NPHS2-related_disorder', 'Nephrotic_range_proteinuria', 'Nephrotic_syndrome,_type_2', 'Steroid-resistant_nephrotic_syndrome'] | GTATATCCGACTCCAAGTACATCTCTCTTTTTTGCATTCACTCTGAAACATTTAAGTGTCACTTTAGGTAACTATCAGGGTTAGGTGTGAGGAATTCAGGGTGGAGCAAAAAGATTGAGTGTGGTTGAGGAAAACTAAGACTTGGTAGTATCATTGGAGAGAAGACTGCATCTTTGGGACAGAAGAGCAATAGAGTGTGACAAGCCCAATGATAGGTGCTTGTAGGAAGGGCTGTGGGAGCTGTGGCAACCTTGCCAAAGGGGTCAGAGGACATACAGTGAAAGGGACATCTGAACCAAGTTCCCAGAAGTCAAAATTTA... | GTATATCCGACTCCAAGTACATCTCTCTTTTTTGCATTCACTCTGAAACATTTAAGTGTCACTTTAGGTAACTATCAGGGTTAGGTGTGAGGAATTCAGGGTGGAGCAAAAAGATTGAGTGTGGTTGAGGAAAACTAAGACTTGGTAGTATCATTGGAGAGAAGACTGCATCTTTGGGACAGAAGAGCAATAGAGTGTGACAAGCCCAATGATAGGTGCTTGTAGGAAGGGCTGTGGGAGCTGTGGCAACCTTGCCAAAGGGGTCAGAGGACATACAGTGAAAGGGACATCTGAACCAAGTTCCCAGAAGTCAAAATTTA... | pathogenic | 18,034 |
Is chromosome 1, position 179559729, gene NPHS2 (NPHS2 stomatin family member, podocin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Nephrotic_syndrome,_type_2'] | TATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAA... | TATTTTAAGGATTTAGCTATAAGGATGTTACTCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAA... | pathogenic | 18,061 |
Variant in NPHS2 (NPHS2 stomatin family member, podocin), chromosome 1, position 179559760—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nephrotic_syndrome,_type_2', 'Steroid-resistant_nephrotic_syndrome'] | TCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAAATATCAACAGTTAACTATGGGTAACAGGATT... | TCACAGTATTGCTAATTGGAATACAAATTGGAAAGAATTTAACATCAACAATAGGGAATTGGTTGAGTAAATTGTGATACAGCCACTAAATGAAATGCTGTATGTCCATTTAAAATAAAGAGATAGAAGCATTTAGCTAATATATGAAAAGATGATCACAATATATTGTTGGGTTAAGAAAGACACATTACAAAACAGTATATATGGTATGATATATGTGTGTATATATATATACCCATCTGTAAATATAACCACATACACTGAAAAATCTGAAAGGATATACTCCAAAATATCAACAGTTAACTATGGGTAACAGGATT... | pathogenic | 18,063 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 179561279, gene NPHS2 (NPHS2 stomatin family member, podocin): what disease(s) if pathogenic? | benign | GTAATCTGCTTTACTCAACGTCTGCTGATTTAAATGTTAATCCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAG... | GTAATCTGCTTTACTCAACGTCTGCTGATTTAAATGTTAATCCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAG... | benign | 18,069 |
A genetic alteration at chromosome 1, position 179561303, in gene NPHS2 (NPHS2 stomatin family member, podocin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Nephrotic_syndrome,_type_2'] | CTGATTTAAATGTTAATCCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATA... | CTGATTTAAATGTTAATCCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATA... | pathogenic | 18,072 |
Variant in gene NPHS2 (NPHS2 stomatin family member, podocin), located at chromosome 1 position 179561320: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['NPHS2-related_disorder', 'Nephrotic_syndrome', 'Nephrotic_syndrome,_type_2', 'Steroid-resistant_nephrotic_syndrome'] | CCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATATCATTATTTTTCTTTCC... | CCCATCTAAAAAAGTACCTTCACAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATATCATTATTTTTCTTTCC... | pathogenic | 18,073 |
Does the variant impacting NPHS2 (NPHS2 stomatin family member, podocin) on chromosome 1, position 179561342, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nephrotic_syndrome', 'Nephrotic_syndrome,_type_2'] | CAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATATCATTATTTTTCTTTCCTATTTTTGAGTATAAATAATCA... | CAGTAACATCCAGATGTGTTTGGCCAAATATAGGTCAAATGATCATGGCCTAGCCAGGCTGACACATAAGGTTAACTATCACAAAGTTCTTTGCCCATTTTTAAAATCAGGTTGTTTACTTTTTTTGTTGTTGAGATGTATGAGTTCTTCATATATATTGAATATTAACCCTTTATGAGATATGATTTGCAAATATTTTCCCCCATTCCCTAGATTGCCTTTGCACTCTGTTAATTGTGTCCTTTGATGCACAAAAGTTTTAAGTTATGATGTAGTCCATATCATTATTTTTCTTTCCTATTTTTGAGTATAAATAATCA... | pathogenic | 18,076 |
Variant on chromosome 1, at position 179564688, affecting NPHS2 (NPHS2 stomatin family member, podocin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nephrotic_syndrome,_type_2'] | TAAGTCCTTTGAGGCTGGGAACCATGTTTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGA... | TAAGTCCTTTGAGGCTGGGAACCATGTTTTGTTTGTCTTCATGAGGTTTACAATTTTATGAGGCCAGAACACTGCCTTGCTTGAAACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGA... | pathogenic | 18,078 |
Is the chromosome 1, position 179564773 variant in NPHS2 (NPHS2 stomatin family member, podocin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['NPHS2-related_disorder', 'Nephrotic_syndrome,_type_2'] | ACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGGCTGAGTCAGTGTTGTATCTTGTGGCAGTCATGCAGGTGCTCAGGTCACCCTTTGAGAA... | ACAATCAGAATGAATGACTGTATGTGGTTCTTAGAGCATGCCAAGCAATTCCCAATTGCTTGGTTTCCTAGCATTACTTGTTTCTTACCTGCTTTTATTGGAAAAAACAAATTCTCCCCAGAGATGAAGGGGAGTCTTATTTCTTCAAGACCTTGCTCAAATATAACTGCCTGGTTCTGCTTTTGTTTCCTCTCCCTAATTGGCTTCTTAGGGCTTACCATCTTAAGTGACCAGATCTGAGAGCCTTTCCCAAAAACCATGGCTGAGTCAGTGTTGTATCTTGTGGCAGTCATGCAGGTGCTCAGGTCACCCTTTGAGAA... | pathogenic | 18,083 |
The mutation in gene NPHS2 (NPHS2 stomatin family member, podocin) at chromosome 1, position 179575708—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nephrotic_syndrome,_type_2'] | TTCATAAATATGTTTCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTT... | TTCATAAATATGTTTCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTT... | pathogenic | 18,092 |
Clinical classification of chromosome 1, position 179575722, gene NPHS2 (NPHS2 stomatin family member, podocin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Nephrotic_syndrome,_type_2'] | TCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTC... | TCAGTTACCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTC... | pathogenic | 18,094 |
Gene NPHS2 (NPHS2 stomatin family member, podocin) variant at chromosome 1, position 179575729—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nephrotic_syndrome,_type_2'] | CCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTA... | CCAGTGGTAGCCATGGCAAGTAAAAATAAATAAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTA... | pathogenic | 18,096 |
Classify the chromosome 1 variant at position 179575760 affecting gene NPHS2 (NPHS2 stomatin family member, podocin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Nephrotic_syndrome,_type_2'] | AAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAA... | AAATGCATATACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAA... | pathogenic | 18,098 |
Does the genetic variant at chromosome 1, position 179575769, impacting gene NPHS2 (NPHS2 stomatin family member, podocin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Nephrotic_syndrome,_type_2'] | TACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAG... | TACAAAATTACATTTTATAAATGAAGAAAGGCCTCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAG... | pathogenic | 18,100 |
Evaluate this variant at chromosome 1, position 179575802, gene NPHS2 (NPHS2 stomatin family member, podocin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Nephrotic_syndrome,_type_2'] | TCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAGGGGATGTTACTCTCTGTTCCCCGTGAGCTTCAG... | TCAAAAATTCCTTCATACAGTAGCGAGAGATATGCGTAGAAAACTAATTTATATCCTCAAACCTAACGTGAAGATTTACCCCCAAAATATTATTCTGTTAGAATAAGTTGCTTGAATATCCAACTTGTTTGGTTTAAGTGAATAGTGAAACATTAATTATTCAAGCAGGAAAACCTTTAAACATTGTCTGAGAGTCCCCAACATTTTGGTGAGGTGAAGCGCCTTTTCATTTCTCCCGTCTTAAGTAGCCTGCCTTTGGGAGTGTGGTGCTAGGTGAAAAAGAGGAGGGGATGTTACTCTCTGTTCCCCGTGAGCTTCAG... | pathogenic | 18,101 |
Is the genetic mutation found on chromosome 1 at position 180271949, within the gene LHX4, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGCTTCAGGGAGGGAGTTGGGCCACAGTAGTTCCGGGATGACAGTGGCCACGTGAGAGAAGAAAACAGCCCGAGGAGAAGGGAAGGCACGGGTGTGTCCCCCCTCACTGTGTACACACATGTCCTGGCTGCACAGCTGCTTCATTCCTCTAGTGCCTCCCAAGATCAGGGCAGGCCGTGTTGCCCTCTGGACTTCCAAGGGGGAAGTGAGTTACTGGCCCAAGTCACTCACTCATCAAGAACACTGAAGCCAGGTCTGCTGACTCCAGGGAGAGCCTTGTAGATTGTGAGGACCGAATGCATATAAAGTCCTTAGTCAAC... | GGCTTCAGGGAGGGAGTTGGGCCACAGTAGTTCCGGGATGACAGTGGCCACGTGAGAGAAGAAAACAGCCCGAGGAGAAGGGAAGGCACGGGTGTGTCCCCCCTCACTGTGTACACACATGTCCTGGCTGCACAGCTGCTTCATTCCTCTAGTGCCTCCCAAGATCAGGGCAGGCCGTGTTGCCCTCTGGACTTCCAAGGGGGAAGTGAGTTACTGGCCCAAGTCACTCACTCATCAAGAACACTGAAGCCAGGTCTGCTGACTCCAGGGAGAGCCTTGTAGATTGTGAGGACCGAATGCATATAAAGTCCTTAGTCAAC... | benign | 18,171 |
Chromosome 1, position 180787871, gene XPR1 (xenotropic and polytropic retrovirus receptor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATAATTAGATAATTAAGTAGAATAAGCTGTTACTCTTATTTTATATCAGCTATAGCTAGATGTTAGTTATTATAAGAGCTGCATCTGTTACCATAGAGCTTCCTTAACGCAAACTCAGCTTTAAAAAAAAAAAAAAGCAAGGGAAAAAGAAAAAGAGAAAGCTGTGACCTGCTTCATGCTTTGAAAAAAATAATTCCCGGTGACCTTGGGCAGCTATAGCCCTTATTGTACCTAGATTGCGGAGTTTAAAGTGGCCATCCTGTTTTACTCTAGAATCAATACAACATCCTGCATTATCTGATCAGGTCTAAAGCACATGA... | ATAATTAGATAATTAAGTAGAATAAGCTGTTACTCTTATTTTATATCAGCTATAGCTAGATGTTAGTTATTATAAGAGCTGCATCTGTTACCATAGAGCTTCCTTAACGCAAACTCAGCTTTAAAAAAAAAAAAAAGCAAGGGAAAAAGAAAAAGAGAAAGCTGTGACCTGCTTCATGCTTTGAAAAAAATAATTCCCGGTGACCTTGGGCAGCTATAGCCCTTATTGTACCTAGATTGCGGAGTTTAAAGTGGCCATCCTGTTTTACTCTAGAATCAATACAACATCCTGCATTATCTGATCAGGTCTAAAGCACATGA... | benign | 18,187 |
Determine if the mutation at chromosome 1, position 181732587 in gene CACNA1E (calcium voltage-gated channel subunit alpha1 E) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGGGTCTATGGCCAGGGCCTCTGCGTTGCTCAAAGGCAGAGGTCACTGCTCACATCCTGGAGTACATGGATGGTGGCCTACGGAAAGATGGTGCTGCCTCTGACCATGGACCACTTCGTAGCCTTGACATCGTGCATGGCAGAGCACTTGCTCCGCTGCATGTTTTGTGAAGCTGGGTCAGGTTCTGCTATGGGAGTCATGAGCTGGGGAGCCACACCCAATGAATGTGCTATGCTAGCCCTAGAAATGACTCGGGGGAGGGGAAGAAAACTACTCAGCAACATCTACAGGATTTCCAAAATAGGAATCTGAAGGATGTG... | AGGGTCTATGGCCAGGGCCTCTGCGTTGCTCAAAGGCAGAGGTCACTGCTCACATCCTGGAGTACATGGATGGTGGCCTACGGAAAGATGGTGCTGCCTCTGACCATGGACCACTTCGTAGCCTTGACATCGTGCATGGCAGAGCACTTGCTCCGCTGCATGTTTTGTGAAGCTGGGTCAGGTTCTGCTATGGGAGTCATGAGCTGGGGAGCCACACCCAATGAATGTGCTATGCTAGCCCTAGAAATGACTCGGGGGAGGGGAAGAAAACTACTCAGCAACATCTACAGGATTTCCAAAATAGGAATCTGAAGGATGTG... | benign | 18,296 |
Is the genetic change at chromosome 1, position 181771283, within gene CACNA1E (calcium voltage-gated channel subunit alpha1 E) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGATTTAAATCTATACTCTCATGAGATTTTTCTATGAGGCCTCAGCATCCCTTCTTTCTCTTCCATACCCTGTTGATGGAGGTTTAAGTTAGTGACAAGGACTAAGTGAAAAGTTGAAAAAAAAAAAAAAGTACAAAAAATTTAAGAACATCTTCACAATAAATATGTGTTTTTGACTTAAATTATGTTTGTTTTGTTCTGCTTTTTGGTTTTTTTTTTTTGTAAAGATGAGGTCTCACTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCTCAAGCAGTCCTCTCACCTCAGCCCCACAAAGTGCTGGGATTACAGG... | TGGATTTAAATCTATACTCTCATGAGATTTTTCTATGAGGCCTCAGCATCCCTTCTTTCTCTTCCATACCCTGTTGATGGAGGTTTAAGTTAGTGACAAGGACTAAGTGAAAAGTTGAAAAAAAAAAAAAAGTACAAAAAATTTAAGAACATCTTCACAATAAATATGTGTTTTTGACTTAAATTATGTTTGTTTTGTTCTGCTTTTTGGTTTTTTTTTTTTGTAAAGATGAGGTCTCACTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCTCAAGCAGTCCTCTCACCTCAGCCCCACAAAGTGCTGGGATTACAGG... | benign | 18,392 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 181776085, gene CACNA1E (calcium voltage-gated channel subunit alpha1 E). What disease(s) is it linked to if pathogenic? | benign | TGCCCGAGGCCTTGTGCTGGAAGCTAAGAACAAAAAATGTGAATCCAAAGCAATTCTGTCCTTGAAGGGTGATGGTAATTAAACCTGCCTCACAAAGAGTTGGAGCAAGCGTAACAACAAGTAATAGGTGTGACTGCACACGCTACACTCTTAATGACTGTTCAAATGAAAGGCAGTAACAGTGCTAACAGTTTTCATTGACATTAATAATAGGTACCCCGAAAAGTATACAAAAGAAATGTCTGGATACATGGAAAACCCTTTCTGTCTCTTGTAAGTGAAAGGGTCCTGCCTGATAGGTAGTAGTTGAACAAGTTCAC... | TGCCCGAGGCCTTGTGCTGGAAGCTAAGAACAAAAAATGTGAATCCAAAGCAATTCTGTCCTTGAAGGGTGATGGTAATTAAACCTGCCTCACAAAGAGTTGGAGCAAGCGTAACAACAAGTAATAGGTGTGACTGCACACGCTACACTCTTAATGACTGTTCAAATGAAAGGCAGTAACAGTGCTAACAGTTTTCATTGACATTAATAATAGGTACCCCGAAAAGTATACAAAAGAAATGTCTGGATACATGGAAAACCCTTTCTGTCTCTTGTAAGTGAAAGGGTCCTGCCTGATAGGTAGTAGTTGAACAAGTTCAC... | benign | 18,398 |
Variant in gene CACNA1E (calcium voltage-gated channel subunit alpha1 E), located at chromosome 1 position 181783787: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTTTTATGTGATATTTTGTGTTTCTACAACTGTGTGGCTTCTTGTGAGTGAGTTACCTGACAAGCAGTGTTAAGTGGTGTGTTTCCTTTTAGAGGAGGCAGAGTGGTGGCCTGTGGGATGGCATATATGGGCAAGAAGGAAGCCTACAGCAAAACAGCTATCAGTGCTCATATGCAAAGAAATATCTTCAATCAGATAAGGAAATCATGCAGAAATTCCTTTAAACGTGGAATTGTTAGGAGAAAGGAAAATTCCTTTAAACAAGAAATTTTTAGGAGAGAGGAAAACTCATAACAAATGTTTTCACCCATGACATAGGA... | TTTTTATGTGATATTTTGTGTTTCTACAACTGTGTGGCTTCTTGTGAGTGAGTTACCTGACAAGCAGTGTTAAGTGGTGTGTTTCCTTTTAGAGGAGGCAGAGTGGTGGCCTGTGGGATGGCATATATGGGCAAGAAGGAAGCCTACAGCAAAACAGCTATCAGTGCTCATATGCAAAGAAATATCTTCAATCAGATAAGGAAATCATGCAGAAATTCCTTTAAACGTGGAATTGTTAGGAGAAAGGAAAATTCCTTTAAACAAGAAATTTTTAGGAGAGAGGAAAACTCATAACAAATGTTTTCACCCATGACATAGGA... | benign | 18,409 |
Variant in gene LAMC2 (laminin subunit gamma 2), located at chromosome 1 position 183207931: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GCAAAAACACATGATGAAAATTACAGAAAGAGAGGTAGATTTAAAACACCATATAAAAATGTTACTGTTTGTAACAACCAAGCTGAATGACCCTCTATTAGGGATTTATAAAAAGAATGTCTACATGCAATGGTAAACTCAATCTTGAGAAGGAACATAAAATGGAAAGATGAGGGCTTTGGAGTCAGACACATCTGGGAGCAAATTACATCTTTGCCATTTAGCTGTGTGACTTTAGGCAAGATACCTAGCCTCTCTGAGTATTTGTTTTTCCATCTATTAAATGGGGATAATAAAACCCATGTTAAAATGTTGTGAGA... | GCAAAAACACATGATGAAAATTACAGAAAGAGAGGTAGATTTAAAACACCATATAAAAATGTTACTGTTTGTAACAACCAAGCTGAATGACCCTCTATTAGGGATTTATAAAAAGAATGTCTACATGCAATGGTAAACTCAATCTTGAGAAGGAACATAAAATGGAAAGATGAGGGCTTTGGAGTCAGACACATCTGGGAGCAAATTACATCTTTGCCATTTAGCTGTGTGACTTTAGGCAAGATACCTAGCCTCTCTGAGTATTTGTTTTTCCATCTATTAAATGGGGATAATAAAACCCATGTTAAAATGTTGTGAGA... | pathogenic | 18,584 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 183207945, gene LAMC2 (laminin subunit gamma 2): what disease(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa,_junctional_3A,_intermediate', 'Epidermolysis_bullosa,_junctional_3B,_severe', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz', 'LAMC2-related_disorder'] | TGAAAATTACAGAAAGAGAGGTAGATTTAAAACACCATATAAAAATGTTACTGTTTGTAACAACCAAGCTGAATGACCCTCTATTAGGGATTTATAAAAAGAATGTCTACATGCAATGGTAAACTCAATCTTGAGAAGGAACATAAAATGGAAAGATGAGGGCTTTGGAGTCAGACACATCTGGGAGCAAATTACATCTTTGCCATTTAGCTGTGTGACTTTAGGCAAGATACCTAGCCTCTCTGAGTATTTGTTTTTCCATCTATTAAATGGGGATAATAAAACCCATGTTAAAATGTTGTGAGAATTAACTGAGCTGT... | TGAAAATTACAGAAAGAGAGGTAGATTTAAAACACCATATAAAAATGTTACTGTTTGTAACAACCAAGCTGAATGACCCTCTATTAGGGATTTATAAAAAGAATGTCTACATGCAATGGTAAACTCAATCTTGAGAAGGAACATAAAATGGAAAGATGAGGGCTTTGGAGTCAGACACATCTGGGAGCAAATTACATCTTTGCCATTTAGCTGTGTGACTTTAGGCAAGATACCTAGCCTCTCTGAGTATTTGTTTTTCCATCTATTAAATGGGGATAATAAAACCCATGTTAAAATGTTGTGAGAATTAACTGAGCTGT... | pathogenic | 18,586 |
Benign or pathogenic: chromosome 1, position 183220852, gene LAMC2 (laminin subunit gamma 2) variant? Disease(s) if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GCAGTAATCAATAGTGAGATCCTGGGACACAGGCTGGTTGCAGGAAAGGCCTGGCCTAATTAAACATGCTGCGAAAATTCTTGTAAGAGGGCCTATCACAGCATATGGCCATATATAACCATCGTGTACAGAAGAGGCACTGCCCTGGGGATAGGATGGCAGTTACATGCACACACATGAATGGGCATGGGGCTGGGAGGAGGTAAGAGCCCTTTGGGCCAAGCCACACTGGAGGAGGTGGAGCAGTGAGGCACCATCCCCCCAAGCTGCCGGTGCAGGACGTGCCTTAAGTACAACTGTGCTCTGGCTTTAAACTCTTC... | GCAGTAATCAATAGTGAGATCCTGGGACACAGGCTGGTTGCAGGAAAGGCCTGGCCTAATTAAACATGCTGCGAAAATTCTTGTAAGAGGGCCTATCACAGCATATGGCCATATATAACCATCGTGTACAGAAGAGGCACTGCCCTGGGGATAGGATGGCAGTTACATGCACACACATGAATGGGCATGGGGCTGGGAGGAGGTAAGAGCCCTTTGGGCCAAGCCACACTGGAGGAGGTGGAGCAGTGAGGCACCATCCCCCCAAGCTGCCGGTGCAGGACGTGCCTTAAGTACAACTGTGCTCTGGCTTTAAACTCTTC... | pathogenic | 18,606 |
Benign or pathogenic: chromosome 1, position 183231027, gene LAMC2 (laminin subunit gamma 2) variant? Disease(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa,_junctional_3A,_intermediate', 'Epidermolysis_bullosa,_junctional_3B,_severe', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CTTGAGAGTAAGCCTAAGCAAACTCAAGTGGGAAGGGGAGTGGGCTGTAAAATAGTTTAAGAGACTCTCTCAGGAAGTCAGCGTAATTGATGTGTAGAAAGGTAACAGTCAACAGTTCTCCTAACAAGACAGCTTCAAAGCAGCAGCTATAGTGGAGCATTCCTGAGGCCTGCTGCAGATCAAAGCATGAATGTGCAGACTGGTCCTCTTGCCCAGCGTTTCTTTCAAATCTTTGCACATGTTATATTTTAGAGGCAAGTTCAGTTCTAGAGGAGCTGGCCTGCCCCACAGACTCACCCCTCAGTCCCAGGCTGACCTTG... | CTTGAGAGTAAGCCTAAGCAAACTCAAGTGGGAAGGGGAGTGGGCTGTAAAATAGTTTAAGAGACTCTCTCAGGAAGTCAGCGTAATTGATGTGTAGAAAGGTAACAGTCAACAGTTCTCCTAACAAGACAGCTTCAAAGCAGCAGCTATAGTGGAGCATTCCTGAGGCCTGCTGCAGATCAAAGCATGAATGTGCAGACTGGTCCTCTTGCCCAGCGTTTCTTTCAAATCTTTGCACATGTTATATTTTAGAGGCAAGTTCAGTTCTAGAGGAGCTGGCCTGCCCCACAGACTCACCCCTCAGTCCCAGGCTGACCTTG... | pathogenic | 18,632 |
Is the chromosome 1, position 183232330 variant in LAMC2 (laminin subunit gamma 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Epidermolysis_bullosa,_junctional_3A,_intermediate', 'Epidermolysis_bullosa,_junctional_3B,_severe', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GATACACAAATATGTATGCAAATAATGATAACACACTTAGATACGTAATCAGCGTTTTGTGAGCACTGAAGATAGAACAACTCAGAGAATCACTGTAATCATCAGAGAAGTGTCTCACCCACTATCATATCCTTAACTCCTATAACAGAACCTGGCTTAATCAATTTGGTTGAATGAGTAAAGGTATTGCTTTCTTAACTGTATTTCCTACACCAAAGGCCGCAGAACAGAGGAAAGAACATTGGCTCTGCCTGACCTCTCATTGTAGCTTGCCATTTACTTGCCATGTAACCTCAGGCAAATTAGTCAACTTCCCTGAG... | GATACACAAATATGTATGCAAATAATGATAACACACTTAGATACGTAATCAGCGTTTTGTGAGCACTGAAGATAGAACAACTCAGAGAATCACTGTAATCATCAGAGAAGTGTCTCACCCACTATCATATCCTTAACTCCTATAACAGAACCTGGCTTAATCAATTTGGTTGAATGAGTAAAGGTATTGCTTTCTTAACTGTATTTCCTACACCAAAGGCCGCAGAACAGAGGAAAGAACATTGGCTCTGCCTGACCTCTCATTGTAGCTTGCCATTTACTTGCCATGTAACCTCAGGCAAATTAGTCAACTTCCCTGAG... | pathogenic | 18,634 |
Evaluate the clinical significance of the mutation at chromosome 1, position 183235621 in gene LAMC2 (laminin subunit gamma 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | GTGTATTGATTGTTTCCTTTATTACAGAAATGTTTGTTGTAGAAAATAAATAAAAATTCTCTATGATCCCATTACTATCAAATAACCACTGTTAAAATTTGGAATATATTCTACTGGACTTTAAATTCATATAAAAAATGTACATGTATATATTTTTATTTTTATTTTTTTTGGCTTCCAGCAGGAAAAGAATTTTTATTTTACTTTGTTGTTGTTTTGGATTTTTTTATGTATATATATTTTAATGCATCTATATCTATATACAGACTTTTTTGAACTTGGATTTCTTTGCTCTTGTCTATACATACTTTTTTTTTCTT... | GTGTATTGATTGTTTCCTTTATTACAGAAATGTTTGTTGTAGAAAATAAATAAAAATTCTCTATGATCCCATTACTATCAAATAACCACTGTTAAAATTTGGAATATATTCTACTGGACTTTAAATTCATATAAAAAATGTACATGTATATATTTTTATTTTTATTTTTTTTGGCTTCCAGCAGGAAAAGAATTTTTATTTTACTTTGTTGTTGTTTTGGATTTTTTTATGTATATATATTTTAATGCATCTATATCTATATACAGACTTTTTTGAACTTGGATTTCTTTGCTCTTGTCTATACATACTTTTTTTTTCTT... | pathogenic | 18,642 |
A genetic variant on chromosome 1, position 183236490, affects the gene LAMC2 (laminin subunit gamma 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Junctional_epidermolysis_bullosa'] | GAAAGGTGAGCAGCATTAGAGGGCACCTCTGCTTCAAGCCGTCTCTGCAAGGCCAGACTTGAATAAGAGTGTAGGGTATTAGGGACCCAAGCATCGTATTTATTCTCTCCAGGCTCCTTTGCAGCCATTCCCTACCTTGAAACCAGTTTTTAACCACTTGGCTTTTATTGTATGTAAGTGGCCACTGGGCAGGGTCATTTGGCAGGAGTTGGGGGTGAGGGTGTTTCTTTCCCACATTTCCCTATGACTCACAGTATGGCTGTGTTGTATGTCAGATGTGATTCCTCGGGCCACGTGAAATGAATCAGCCCTTGGAAGAG... | GAAAGGTGAGCAGCATTAGAGGGCACCTCTGCTTCAAGCCGTCTCTGCAAGGCCAGACTTGAATAAGAGTGTAGGGTATTAGGGACCCAAGCATCGTATTTATTCTCTCCAGGCTCCTTTGCAGCCATTCCCTACCTTGAAACCAGTTTTTAACCACTTGGCTTTTATTGTATGTAAGTGGCCACTGGGCAGGGTCATTTGGCAGGAGTTGGGGGTGAGGGTGTTTCTTTCCCACATTTCCCTATGACTCACAGTATGGCTGTGTTGTATGTCAGATGTGATTCCTCGGGCCACGTGAAATGAATCAGCCCTTGGAAGAG... | pathogenic | 18,646 |
Variant at chromosome position 183240398, chromosome 1, gene LAMC2 (laminin subunit gamma 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAGCTGTGT... | GAGCACAAGAAGCACTGAGTATGGGCAATGCCACTTTTTATGAAGTTGAGAGCATCCTTAAAAACCTCAGAGGTTAGTACTTCATGGTTCAGGTCACTTGAGTATTTTAAGTGTATAGTCATGACCAATTTCCTTTGAATTCTCATATGTCTCTCTAAGTGGCAGGTATATTGGGATATTAATAGATCCTTAGTAAATATCTTTCTAAAGAAAATCTTAATGCATTAATATTTAATGTAGTAGTAATAATAGAGCTAGATGTCAGAAGCCTTGAGTTCTGATCTCTGCTGGGCCACCTAACCAGGCCAGACTAGCTGTGT... | benign | 18,661 |
The chromosome 1, position 183243171 genetic variant in gene LAMC2 (laminin subunit gamma 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Junctional_epidermolysis_bullosa_gravis_of_Herlitz'] | CTGTAATTCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGCACCACTGCTCTCCAGCCTGGGGAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAGGAAAAATAAAAAAGAATCACTTGCCGATTTTACATTTGTTCCTCCCCAAACCAAAGTTATACCTTGATGTAACCAGTGGGAGGAACTTGAGCTGCTTGGGTAAATAACCCAGAAGAAATGTGATGAGAGTAGGCCTGTGAGATAATTTTAGGAAGATCTGATGGCACAGCGTGGAAGAAA... | CTGTAATTCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGCACCACTGCTCTCCAGCCTGGGGAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAGGAAAAATAAAAAAGAATCACTTGCCGATTTTACATTTGTTCCTCCCCAAACCAAAGTTATACCTTGATGTAACCAGTGGGAGGAACTTGAGCTGCTTGGGTAAATAACCCAGAAGAAATGTGATGAGAGTAGGCCTGTGAGATAATTTTAGGAAGATCTGATGGCACAGCGTGGAAGAAA... | pathogenic | 18,664 |
A mutation at chromosome position 183563436 on chromosome 1 in gene NCF2 (neutrophil cytosolic factor 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2'] | GCTTACCAGCTCTGTGTCCCTAAGCAAGCAGTGTAACTTCTCAGAACCTCAGTTACCTCACCTGAAATTGAGGCTAGAAGAATTCAATGAGATGACATACAATAATAGTAGTTGACATTTATTGAACACTTACTCTGTGGCAGTACTCTTCTAAATATGTATAAATATTTAGACTTGGTTAATGGTAAGTGTTCCTGCATAGAGTAGATGCTTAATAAATGTTAGTTCATTTTATTTTTCTTTCTTTTCTTTTCTTTTTTTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCT... | GCTTACCAGCTCTGTGTCCCTAAGCAAGCAGTGTAACTTCTCAGAACCTCAGTTACCTCACCTGAAATTGAGGCTAGAAGAATTCAATGAGATGACATACAATAATAGTAGTTGACATTTATTGAACACTTACTCTGTGGCAGTACTCTTCTAAATATGTATAAATATTTAGACTTGGTTAATGGTAAGTGTTCCTGCATAGAGTAGATGCTTAATAAATGTTAGTTCATTTTATTTTTCTTTCTTTTCTTTTCTTTTTTTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCT... | pathogenic | 18,686 |
Does the genetic variant at chromosome 1, position 183567222, impacting gene NCF2 (neutrophil cytosolic factor 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2'] | TTATCCAGAATCTGCTTCAAGTGCACTTCCCAAGACAGCCCTCTCCACACTAGGAAACAGCCTTTCAGAGAGAACATTTCCATTTCACATCTGCCCATTGGTTCTTTGTTCATCCTCAGGGCTCCACAGAGCAATTTCTTTTCCAGATACAGTGCCTCAGACATTTGAAAACAGCCACTCCATGCCCCTCAGAGATAAGCAGGTATAGTTACTTCAACTTTTCTTCCTGAGACATCGTTTCCCTACCTAATGATCAAGGGGTTTGGTGACTACGTGAGTCACTCAGGAACCAGCTGCATTCACCCAAGCCCCGTGAGTGT... | TTATCCAGAATCTGCTTCAAGTGCACTTCCCAAGACAGCCCTCTCCACACTAGGAAACAGCCTTTCAGAGAGAACATTTCCATTTCACATCTGCCCATTGGTTCTTTGTTCATCCTCAGGGCTCCACAGAGCAATTTCTTTTCCAGATACAGTGCCTCAGACATTTGAAAACAGCCACTCCATGCCCCTCAGAGATAAGCAGGTATAGTTACTTCAACTTTTCTTCCTGAGACATCGTTTCCCTACCTAATGATCAAGGGGTTTGGTGACTACGTGAGTCACTCAGGAACCAGCTGCATTCACCCAAGCCCCGTGAGTGT... | pathogenic | 18,698 |
Clinical significance of chromosome 1, position 183574570, gene NCF2 (neutrophil cytosolic factor 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Chronic_granulomatous_disease', 'Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2'] | TAAACATAGGGCTGTGGAAGTGGGGAAAGACTCCTCAGCCCACTAAAACGTGAACTACAAGGAGCATTAATCCAAGAGGATCCCATGCTGATCTCTTTCCCTAACATGTTCTCTTCATATTTATTTTTATTTTTTAGAAACAGAGTCTCAATCTGTTGCCCAAGCTAGAGTACAGTGGTGCAATCATAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAGTGATCCTCTCACCTCAGCCTCTCCACTAGCTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTTCAGCCTTCCAAAGCACTGGGATTACAG... | TAAACATAGGGCTGTGGAAGTGGGGAAAGACTCCTCAGCCCACTAAAACGTGAACTACAAGGAGCATTAATCCAAGAGGATCCCATGCTGATCTCTTTCCCTAACATGTTCTCTTCATATTTATTTTTATTTTTTAGAAACAGAGTCTCAATCTGTTGCCCAAGCTAGAGTACAGTGGTGCAATCATAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAGTGATCCTCTCACCTCAGCCTCTCCACTAGCTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTTCAGCCTTCCAAAGCACTGGGATTACAG... | pathogenic | 18,707 |
Gene NCF2 (neutrophil cytosolic factor 2) variant at chromosome position 183590266 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2'] | ACACAACAGAGCACCTTGTCCAGGAGAGTAGTAATTACTATTTATTGCTCTGTGGAAGATAAAAAAGATAGGGAAATAGGAGAAGCTTCTTTGAAAAATGAAACATCATTAGACGGGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAATGATATCTAATGTAATAATGAAATTTTAACCCTTGTT... | ACACAACAGAGCACCTTGTCCAGGAGAGTAGTAATTACTATTTATTGCTCTGTGGAAGATAAAAAAGATAGGGAAATAGGAGAAGCTTCTTTGAAAAATGAAACATCATTAGACGGGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAATGATATCTAATGTAATAATGAAATTTTAACCCTTGTT... | pathogenic | 18,718 |
A genetic alteration at chromosome 1, position 183590577, in gene NCF2—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ACCCTTGTTGCATTTCTTGTATTCCTATGAATGTATTGAACATTCAGTTTAAATAAATAATAAAATTTATTGCAAATGAAAATAATTAAAATATTATATAAATTGTTATATTTGTTTACTATACAAACTTATACATGAATAGTATACAATTAAAATGATAATGAATAAGAATGCATATAAATGCTAGTAGGAAGGGCTCAAGCAGGAAAACAAAGAAAGGCAGAAGGAATGAGAAGGCTAGAAGCAGAGGAATGCCAGGAGAAACAGAGACATGTGGGCCTGAAGGCCTGGGAGCTGAGAAGTGAGTGGTGGCCCACACA... | ACCCTTGTTGCATTTCTTGTATTCCTATGAATGTATTGAACATTCAGTTTAAATAAATAATAAAATTTATTGCAAATGAAAATAATTAAAATATTATATAAATTGTTATATTTGTTTACTATACAAACTTATACATGAATAGTATACAATTAAAATGATAATGAATAAGAATGCATATAAATGCTAGTAGGAAGGGCTCAAGCAGGAAAACAAAGAAAGGCAGAAGGAATGAGAAGGCTAGAAGCAGAGGAATGCCAGGAGAAACAGAGACATGTGGGCCTGAAGGCCTGGGAGCTGAGAAGTGAGTGGTGGCCCACACA... | benign | 18,721 |
Variant in HMCN1 (hemicentin 1), chromosome 1, position 186015942—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCTTCCATAGAGAAGAATTATAAATAAATTATGTAGGTAGTCCCCACTCATAGAAGTAGAACATAATTCCTTACTCCATTTCTATGGGCTGGAATAAGGACTGCCTTCAAAGGAAAGGGGAAGAAAAAGAGTAACTTTACAGTGGAGAAATATGGCAAACACTACCTTAGCCGGGTTACCAAAGGTACATGCTGTCAGCATAACTTAGCACAGGTCTCAGTGATAAGTCATGTTGATAGCATGTACGTTTGGTAGCATGTGATGAAAATAGCACTTTACCTGTATGGGCTGCCTCTCAAAATCCATAATCCTAGCTTAAC... | TCTTCCATAGAGAAGAATTATAAATAAATTATGTAGGTAGTCCCCACTCATAGAAGTAGAACATAATTCCTTACTCCATTTCTATGGGCTGGAATAAGGACTGCCTTCAAAGGAAAGGGGAAGAAAAAGAGTAACTTTACAGTGGAGAAATATGGCAAACACTACCTTAGCCGGGTTACCAAAGGTACATGCTGTCAGCATAACTTAGCACAGGTCTCAGTGATAAGTCATGTTGATAGCATGTACGTTTGGTAGCATGTGATGAAAATAGCACTTTACCTGTATGGGCTGCCTCTCAAAATCCATAATCCTAGCTTAAC... | benign | 18,775 |
Chromosome 1, position 186038044, gene HMCN1 (hemicentin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCTTTTTAACAATTTTTGCTTTGTTATTCAATGCATAAGGTATTGTCATTATAAAATATTATTCATGAATATAAATCATGTTGTTTTGTCATGTTTAATAATTTTTGCTTTGTATAGTTGTCAGAAATCGATGTCAAATTATTGTATATCTTTGTCCTTCTCCTTATTGTAACATTTTTGTGGGTTTTTATTTGTGCTCCTTATCCACTTAGATATTTTAATTAAAAATAGTTTTAACCCATTGTATTAGTCCATGTTCATGCTGCCGATAAAGACATACCCAAGACTGGGCAATTTAGAAAAGAAAGAGGTTTAATGGA... | GCTTTTTAACAATTTTTGCTTTGTTATTCAATGCATAAGGTATTGTCATTATAAAATATTATTCATGAATATAAATCATGTTGTTTTGTCATGTTTAATAATTTTTGCTTTGTATAGTTGTCAGAAATCGATGTCAAATTATTGTATATCTTTGTCCTTCTCCTTATTGTAACATTTTTGTGGGTTTTTATTTGTGCTCCTTATCCACTTAGATATTTTAATTAAAAATAGTTTTAACCCATTGTATTAGTCCATGTTCATGCTGCCGATAAAGACATACCCAAGACTGGGCAATTTAGAAAAGAAAGAGGTTTAATGGA... | benign | 18,782 |
Is the chromosome 1, position 186144718 variant in HMCN1 (hemicentin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACTTGAACTCTACAACATTTTGTATCTTGAAGTCCAATTCTAGTTAGGATTTTCCATATTGATTAAAAAATAAAAATAAAAAAGTCTTTAGCTGAAAACCTGTATTTATATGTAGTAGAAATGACACAGAAATGAATAAATGTTACCCAATTGTTAACCCTCCAATTAAAAATGCATCTATATTAAATGGCATTATATTGTAAGAGGCTGAGGCTTTTGTTAACCAACAGCCTTGAAAATAAAATGTATTAAAATAATTGGAACTTCAGAATTTTTGAAATCATACAGTCAATATTTGAGGGCTATGAGCATCCACAGC... | CACTTGAACTCTACAACATTTTGTATCTTGAAGTCCAATTCTAGTTAGGATTTTCCATATTGATTAAAAAATAAAAATAAAAAAGTCTTTAGCTGAAAACCTGTATTTATATGTAGTAGAAATGACACAGAAATGAATAAATGTTACCCAATTGTTAACCCTCCAATTAAAAATGCATCTATATTAAATGGCATTATATTGTAAGAGGCTGAGGCTTTTGTTAACCAACAGCCTTGAAAATAAAATGTATTAAAATAATTGGAACTTCAGAATTTTTGAAATCATACAGTCAATATTTGAGGGCTATGAGCATCCACAGC... | benign | 18,860 |
Gene mutation in HMCN1 at chromosome 1, position 186152863—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ATTAAAATGGTTAACACATACTAGATGTTTACCATCATGCATGACATGCTCAATAAACTCTCATTGTCATCACCACCACCAACATATTCTTTATTTTTAGTTTGGGGACTGGACACTGATTGTATTCTTTGGCTTATGAAATATTAATAACACTATGATGTGCACAGATTAGAAGGATCTTAGATTTATGGGTGATGATGGTTGTTATGTGAAAGTAGAATGTTTTAAAAGCTTATTTATTTCACTATTAAATTCAGATGTCATATGACCTTTTTGATGTTTGAGAAAAGATTTGTAGCATCTCTGAATACTGGCCCTCT... | ATTAAAATGGTTAACACATACTAGATGTTTACCATCATGCATGACATGCTCAATAAACTCTCATTGTCATCACCACCACCAACATATTCTTTATTTTTAGTTTGGGGACTGGACACTGATTGTATTCTTTGGCTTATGAAATATTAATAACACTATGATGTGCACAGATTAGAAGGATCTTAGATTTATGGGTGATGATGGTTGTTATGTGAAAGTAGAATGTTTTAAAAGCTTATTTATTTCACTATTAAATTCAGATGTCATATGACCTTTTTGATGTTTGAGAAAAGATTTGTAGCATCTCTGAATACTGGCCCTCT... | benign | 18,866 |
Evaluate if the mutation on chromosome 1 at position 186307034 in PRG4 (proteoglycan 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome'] | AGTAATGCGTGTTGGCAGAATGAGGACATCTTAATATGGGGGGGAATATAACTTTATGAATATTATCTTAGAAAGTACCAAATGAATACTTCCTACAGGAAATTAGTGCCAAGCGGCTAAGAAGCCACTCTAAAAGCAAAGGATAAGAAGATGCTGTAGCAGGACTGTGGAACCACAAGATGGCACCAGAGATGATTATTGATGGCTTTCTACTGTCATTCTTGTTTACTTGACATCATTTTGCTTCTTCTCCTTCATCTTCCTTGCATTTTCATTTTCCCTTCCCCAGCTTTATTTTAACAAACATTTATATACTATTG... | AGTAATGCGTGTTGGCAGAATGAGGACATCTTAATATGGGGGGGAATATAACTTTATGAATATTATCTTAGAAAGTACCAAATGAATACTTCCTACAGGAAATTAGTGCCAAGCGGCTAAGAAGCCACTCTAAAAGCAAAGGATAAGAAGATGCTGTAGCAGGACTGTGGAACCACAAGATGGCACCAGAGATGATTATTGATGGCTTTCTACTGTCATTCTTGTTTACTTGACATCATTTTGCTTCTTCTCCTTCATCTTCCTTGCATTTTCATTTTCCCTTCCCCAGCTTTATTTTAACAAACATTTATATACTATTG... | pathogenic | 18,891 |
Evaluate the clinical significance of the mutation at chromosome 1, position 186307653 in gene PRG4 (proteoglycan 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome'] | CGAAGCATTCGCTCTAAATAAATAGCCAGGCATTTAATCTTTTAGTCACCCAGAAAATCGTGCAGGAAGCCACCCTTGGGCTTTGTAGTCCACATGTGGGGCAGCTGCTATGGGAAAGCCTTGATAAATACTGTCTTTTTGCTGCCCATCACACCCTAAGCTCCTCCTTATGTCCCCTGGGACCTGCAAGGTTAGCTGCGCAGAAGAAAAGGAGTGGCTAATAGCCCTATGTATGGGAACAAGGCTCAGCAGGGACTGTGGGGGTGACTGGGGCAGATTGCTCAGAGGTAGCTGTAGAGGCCTCTGAGATAATTGGTGCA... | CGAAGCATTCGCTCTAAATAAATAGCCAGGCATTTAATCTTTTAGTCACCCAGAAAATCGTGCAGGAAGCCACCCTTGGGCTTTGTAGTCCACATGTGGGGCAGCTGCTATGGGAAAGCCTTGATAAATACTGTCTTTTTGCTGCCCATCACACCCTAAGCTCCTCCTTATGTCCCCTGGGACCTGCAAGGTTAGCTGCGCAGAAGAAAAGGAGTGGCTAATAGCCCTATGTATGGGAACAAGGCTCAGCAGGGACTGTGGGGGTGACTGGGGCAGATTGCTCAGAGGTAGCTGTAGAGGCCTCTGAGATAATTGGTGCA... | pathogenic | 18,893 |
A mutation at chromosome position 186308958 on chromosome 1 in gene PRG4 (proteoglycan 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome'] | ACCCACCACCACCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCACCAAGGAGCCTGCACCCACCACCACCAAGTCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTACACCCACCACTCCCAAGGAGCCTGCACCCACCACCAAGGAGCCTGCACCCACCACTCCCAAAGAGCCTGCACCCACTGCCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCCACCACTCCCA... | ACCCACCACCACCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCACCAAGGAGCCTGCACCCACCACCACCAAGTCTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCCACCACTCCCAAGGAGCCTACACCCACCACTCCCAAGGAGCCTGCACCCACCACCAAGGAGCCTGCACCCACCACTCCCAAAGAGCCTGCACCCACTGCCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGCCTGCACCCACCACTCCCA... | pathogenic | 18,898 |
Gene mutation in PRG4 (proteoglycan 4) at chromosome 1, position 186309828—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome'] | GCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGACTGCTCCAACTACCCCTAAAGGGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGAAGCCTGCCCCCAAGGAGCTTGCACCCACCACCACCAAGGAGCCCACATCCACCACCTCTGACAAGCCCGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTC... | GCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGACTGCTCCAACTACCCCTAAAGGGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTCCCAAGAAGCCTGCCCCCAAGGAGCTTGCACCCACCACCACCAAGGAGCCCACATCCACCACCTCTGACAAGCCCGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGGGACTGCTCCAACTACCCTCAAGGAACCTGCACCCACTACTC... | pathogenic | 18,899 |
Is the genetic mutation found on chromosome 1 at position 186311558, within the gene PRG4 (proteoglycan 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome'] | ATTGAGTTCATACATCCAAAAAATGTCTAGTTTACATGAAAATCAAGGTAACCTGGTCCATTCCAATTCATAATAATTTATTTCATATAATACTTTTGAAGAGTATCATCTTTAAGTAAAATGGAATTATCAAGTATATAACTATGCAAACAGGTCAAACTGTGTCCTTCAAGATCTTAGAAAAGGTAAACAGGAAATAGAACCATGTGGAAAGACTTGAAAAGAACATACAGACTTTTCTCATTCTGTTCTATATTTGTTTTGTTTTTGTTAATTTGTTTAGATGAGACCAATATATGCAATGGTAAGCCAGTAGATGG... | ATTGAGTTCATACATCCAAAAAATGTCTAGTTTACATGAAAATCAAGGTAACCTGGTCCATTCCAATTCATAATAATTTATTTCATATAATACTTTTGAAGAGTATCATCTTTAAGTAAAATGGAATTATCAAGTATATAACTATGCAAACAGGTCAAACTGTGTCCTTCAAGATCTTAGAAAAGGTAAACAGGAAATAGAACCATGTGGAAAGACTTGAAAAGAACATACAGACTTTTCTCATTCTGTTCTATATTTGTTTTGTTTTTGTTAATTTGTTTAGATGAGACCAATATATGCAATGGTAAGCCAGTAGATGG... | pathogenic | 18,901 |
Assess the variant on chromosome 1, position 193122189, impacting CDC73 (cell division cycle 73): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TATTGGTAGGGCAATTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTAT... | TATTGGTAGGGCAATTATAAGGGTACTTAGATAAAAACAAAAATGATCTACAATTGCTTCTGTAGACACAGGGTCTAGGTATGTTGCCCAGGCTGGTCAGGAAAAAAATGATCTACAAATTTCAATGCTTTAACTGTTAAAAGCAACAACTTACTAATGACTTATCTTACCACTTTTTAAAATTCATTAACCTAAAAAACATAATTTCTCTGAAAAGAGAGACTTTAATCATTATTTGAGTATGAAATAAAATTAAGTATCGTTTGAAGGGACTATAGTCGAGCCTCCTAATCATGAAATCTTGGCTTCCTTGAGCTTAT... | benign | 18,928 |
Variant in gene CDC73 (cell division cycle 73), located at chromosome 1 position 193125238: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCGATGAAAAACTAGGGAAATTTAGTTTGTTGGTTGGTATTTATTTATTTATTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAATCTTTGCCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAGGTTGCAGGCCCCCGCCACCATGGCCGGCTAATTTATGTAGTTTAGTAGAGATGTGGTTTCACCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAATAATCTGCCCGCCTCCACTTCCCAAAGTGCTTGGATTACAGGCGTG... | TCGATGAAAAACTAGGGAAATTTAGTTTGTTGGTTGGTATTTATTTATTTATTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAATCTTTGCCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAGGTTGCAGGCCCCCGCCACCATGGCCGGCTAATTTATGTAGTTTAGTAGAGATGTGGTTTCACCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAATAATCTGCCCGCCTCCACTTCCCAAAGTGCTTGGATTACAGGCGTG... | benign | 18,975 |
Assess the variant on chromosome 1, position 193138138, impacting CDC73 (cell division cycle 73): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Parathyroid_carcinoma'] | AATTCTTTCTTTATGAAAGGCCAGATAGTAAATATTTTAGGCCTTATGGGCCATACAGTTTATGTTGCAACTATTTTACTTTAATATTGTAGTGTGAAAGCACTCATAGACAATACATAAATGAACAGATGTGGCTATGTTTCTATAAAAAACTTCAGAAAACAGATGGCGGGCCAGAATTGGTCTTTGGGATGTAGTTTGCCTACCTTTGGAACAATGTGTTATGGGTGCTTGCTTTACTGCTCAGAGCTGTGAACATGAAGTACTTACTACTTTAATGTAATCTTAATTAAGGATATTCTGAGAAATGGATCTGATAT... | AATTCTTTCTTTATGAAAGGCCAGATAGTAAATATTTTAGGCCTTATGGGCCATACAGTTTATGTTGCAACTATTTTACTTTAATATTGTAGTGTGAAAGCACTCATAGACAATACATAAATGAACAGATGTGGCTATGTTTCTATAAAAAACTTCAGAAAACAGATGGCGGGCCAGAATTGGTCTTTGGGATGTAGTTTGCCTACCTTTGGAACAATGTGTTATGGGTGCTTGCTTTACTGCTCAGAGCTGTGAACATGAAGTACTTACTACTTTAATGTAATCTTAATTAAGGATATTCTGAGAAATGGATCTGATAT... | pathogenic | 19,019 |
Mutation found at chromosome 1 position 193138169, gene CDC73 (cell division cycle 73): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Parathyroid_carcinoma'] | ATATTTTAGGCCTTATGGGCCATACAGTTTATGTTGCAACTATTTTACTTTAATATTGTAGTGTGAAAGCACTCATAGACAATACATAAATGAACAGATGTGGCTATGTTTCTATAAAAAACTTCAGAAAACAGATGGCGGGCCAGAATTGGTCTTTGGGATGTAGTTTGCCTACCTTTGGAACAATGTGTTATGGGTGCTTGCTTTACTGCTCAGAGCTGTGAACATGAAGTACTTACTACTTTAATGTAATCTTAATTAAGGATATTCTGAGAAATGGATCTGATATTTTTAAGAGATAATGATGATAATTGATTCAT... | ATATTTTAGGCCTTATGGGCCATACAGTTTATGTTGCAACTATTTTACTTTAATATTGTAGTGTGAAAGCACTCATAGACAATACATAAATGAACAGATGTGGCTATGTTTCTATAAAAAACTTCAGAAAACAGATGGCGGGCCAGAATTGGTCTTTGGGATGTAGTTTGCCTACCTTTGGAACAATGTGTTATGGGTGCTTGCTTTACTGCTCAGAGCTGTGAACATGAAGTACTTACTACTTTAATGTAATCTTAATTAAGGATATTCTGAGAAATGGATCTGATATTTTTAAGAGATAATGATGATAATTGATTCAT... | pathogenic | 19,026 |
The genetic variant at chromosome 1, position 193141961, affecting gene CDC73 (cell division cycle 73): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hyperparathyroidism_1', 'Parathyroid_carcinoma'] | CTGTCTAATTCACTTGGGTGGTTCTTTATTCAACCTTACATAGTTTCTTCATATTTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATAT... | CTGTCTAATTCACTTGGGTGGTTCTTTATTCAACCTTACATAGTTTCTTCATATTTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATAT... | pathogenic | 19,036 |
Clinical significance of chromosome 1, position 193142015, gene CDC73 (cell division cycle 73): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CDC73-related_disorder', 'Hereditary_cancer-predisposing_syndrome', 'Hyperparathyroidism_1', 'Hyperparathyroidism_2_with_jaw_tumors', 'Parathyroid_carcinoma'] | TTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTG... | TTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTG... | pathogenic | 19,041 |
The genetic variant at chromosome 1, position 193142015, affecting gene CDC73 (cell division cycle 73): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hyperparathyroidism_2_with_jaw_tumors', 'Parathyroid_carcinoma'] | TTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTG... | TTGTGCTAGTCAGAATTCTGCTGGGGTACGTGAGGGGGATCTTCTGTGCAGTTCTCAGGTCTTCTGACCTATGAATTCTAAACACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTG... | pathogenic | 19,043 |
Is chromosome 1, position 193142098, gene CDC73 (cell division cycle 73) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTGGAGGGTTAGTCTAGTCTCTGGTACTTCATCTTGGCTGTAAGTAAAAATTCTATGTTTCAAAGTCCATTGGAGGCTTGATTATA... | ACCTTGGTCTTGCTGTAGTCTCAGCTCCATTTCTTCTTATCAGAGAATCCGCTCAGCTCTACATGGGTTCTCCTCCCAAGGCCATGTCTTGGAAACTTACAGGCAATAAGCTGAGGCAGTCATAGGGCTTACCTTGTTTGTTTCTCATTTGTTAGGGAATTACTGTCCTTCATTGCTTGATATCTAGCATCTAGTAAACCATTGTTTTATGTATTTTGACTGGTTATTTAAAGGCTGGAGGGTTAGTCTAGTCTCTGGTACTTCATCTTGGCTGTAAGTAAAAATTCTATGTTTCAAAGTCCATTGGAGGCTTGATTATA... | benign | 19,052 |
Gene CDC73 (cell division cycle 73) variant at chromosome position 193150292 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGCCTACTCATTGTTGCTTGGGACAATTGCTAACCATTGTTAATAACATAAATCCCTGTTAACTCCCAGTTTGGGGTTCTTTTTGGCATTGTATCTATTACATCTTGGTGAATGTATTTCTCTTGATCACCAGCCATGCTGTCCTTTAATTGTACCTCCATTTCAGCTGCTCTGAGAGTTGACTGCCTTCTCTTTGAAGTGCCACTTAAGACCCTCCCAAAGTAAATTTCACGTATGACATATAGCCTATATTTAAATTCAAACATCCTCTAATTTTGTTGAAAATCCTTCCAGCTATTTTCATATGATTCAACAAAGG... | TGGCCTACTCATTGTTGCTTGGGACAATTGCTAACCATTGTTAATAACATAAATCCCTGTTAACTCCCAGTTTGGGGTTCTTTTTGGCATTGTATCTATTACATCTTGGTGAATGTATTTCTCTTGATCACCAGCCATGCTGTCCTTTAATTGTACCTCCATTTCAGCTGCTCTGAGAGTTGACTGCCTTCTCTTTGAAGTGCCACTTAAGACCCTCCCAAAGTAAATTTCACGTATGACATATAGCCTATATTTAAATTCAAACATCCTCTAATTTTGTTGAAAATCCTTCCAGCTATTTTCATATGATTCAACAAAGG... | benign | 19,072 |
Classify the chromosome 1 variant at position 193152366 affecting gene CDC73 (cell division cycle 73) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAAAGGAAAAGAAGGCAAGTTGCTTAATTCTTATCTTCCCCTTAGTGTGGTTGTGTTGAACTTGAGAGGCAGTGTGGCCTGATGTTTAAGGGTAAGGGTTGGCAAAGTAATGTCTACAGACCAGATCTTACCCACTGCAATTTTTCTTAAATAACATTTTGTTGGGACACAACCACACTCATTCATTTATGTATTTTATATATGGCTGCTTTGGCTTTGTGACATCAGTATTGAATTGTTTCAGTAGAGACTGTGTAGCCTACAAAGCC... | CACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAAAGGAAAAGAAGGCAAGTTGCTTAATTCTTATCTTCCCCTTAGTGTGGTTGTGTTGAACTTGAGAGGCAGTGTGGCCTGATGTTTAAGGGTAAGGGTTGGCAAAGTAATGTCTACAGACCAGATCTTACCCACTGCAATTTTTCTTAAATAACATTTTGTTGGGACACAACCACACTCATTCATTTATGTATTTTATATATGGCTGCTTTGGCTTTGTGACATCAGTATTGAATTGTTTCAGTAGAGACTGTGTAGCCTACAAAGCC... | benign | 19,082 |
Mutation at chromosome 1, position 193152366, within CDC73 (cell division cycle 73): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAAAGGAAAAGAAGGCAAGTTGCTTAATTCTTATCTTCCCCTTAGTGTGGTTGTGTTGAACTTGAGAGGCAGTGTGGCCTGATGTTTAAGGGTAAGGGTTGGCAAAGTAATGTCTACAGACCAGATCTTACCCACTGCAATTTTTCTTAAATAACATTTTGTTGGGACACAACCACACTCATTCATTTATGTATTTTATATATGGCTGCTTTGGCTTTGTGACATCAGTATTGAATTGTTTCAGTAGAGACTGTGTAGCCTACAAAGCC... | CACCAAACAGCCTATCCCAGCTGCCTATAACAGATACGATCAGGAAAGATTCAAAGGAAAAGAAGGCAAGTTGCTTAATTCTTATCTTCCCCTTAGTGTGGTTGTGTTGAACTTGAGAGGCAGTGTGGCCTGATGTTTAAGGGTAAGGGTTGGCAAAGTAATGTCTACAGACCAGATCTTACCCACTGCAATTTTTCTTAAATAACATTTTGTTGGGACACAACCACACTCATTCATTTATGTATTTTATATATGGCTGCTTTGGCTTTGTGACATCAGTATTGAATTGTTTCAGTAGAGACTGTGTAGCCTACAAAGCC... | benign | 19,083 |
Evaluate the clinical significance of the mutation at chromosome 1, position 193212385 in gene CDC73 (cell division cycle 73): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTTAAAGATGGTATCCATTTTTAAGAACTGACATTGAATTAGAATTTTAAGTCTCCTAAATTTTTCTTTATTTTTGTCATTTAAAAAACAAAACTCAAGCACAGCTTGTAGCACATTGAGTTATTGTATGGTCAAATACTGAAAATAGAACTTGCAGCACTTTTTATCCTAAGATGTATTCATCTTGTGTTAGGTTATTATTACCATTATGTCAACAAATATTTCTAAGCATTAAAAGTTCATTGTATATAAACAAAATACAAACATATGGGCCAGGCTCAGTGGCTCACCTGTGTAATCCCAGCACTTTGGGAGGCTGA... | TTTAAAGATGGTATCCATTTTTAAGAACTGACATTGAATTAGAATTTTAAGTCTCCTAAATTTTTCTTTATTTTTGTCATTTAAAAAACAAAACTCAAGCACAGCTTGTAGCACATTGAGTTATTGTATGGTCAAATACTGAAAATAGAACTTGCAGCACTTTTTATCCTAAGATGTATTCATCTTGTGTTAGGTTATTATTACCATTATGTCAACAAATATTTCTAAGCATTAAAAGTTCATTGTATATAAACAAAATACAAACATATGGGCCAGGCTCAGTGGCTCACCTGTGTAATCCCAGCACTTTGGGAGGCTGA... | benign | 19,108 |
Variant at chromosome position 193250665, chromosome 1, gene CDC73 (cell division cycle 73): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGATTAATAGGAGGAAGTCAAAATATTAACATAACCAGAAGTTTAGAAGAAGTTGATTCCTACCTTCATGGTTCATAGATGACTTTGAGGGGTTCAAGACTTCAGTGGAGGAAATAAAGATAGGGTGTGGAAATAGCAAGTGAACTAGCATTAGAAGTGGAGCTTGAAGATGTGACTGAATTGCTGCACACTCATGCTGGAACTTGAATGGATGAGGAGTTCCTTCTTACAGATGAGCAAAGAAAGTGGTTTTTTTGAGATAGAATTCACTCCAGTGAGCACTTTCGTGAAGATGCCATAAACGTTGTTGAAATGACAAC... | TGATTAATAGGAGGAAGTCAAAATATTAACATAACCAGAAGTTTAGAAGAAGTTGATTCCTACCTTCATGGTTCATAGATGACTTTGAGGGGTTCAAGACTTCAGTGGAGGAAATAAAGATAGGGTGTGGAAATAGCAAGTGAACTAGCATTAGAAGTGGAGCTTGAAGATGTGACTGAATTGCTGCACACTCATGCTGGAACTTGAATGGATGAGGAGTTCCTTCTTACAGATGAGCAAAGAAAGTGGTTTTTTTGAGATAGAATTCACTCCAGTGAGCACTTTCGTGAAGATGCCATAAACGTTGTTGAAATGACAAC... | benign | 19,180 |
A genetic alteration at chromosome 1, position 196492292, in gene KCNT2 (potassium sodium-activated channel subfamily T member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_57', 'Seizure'] | TATGTTTATATGTTTAAGCATTTTATACATCCATAAATTTTGGGATAAACTTTGGCTAGAAAATCTAGCTGCTTACAAATTCACAAGCCAAGTTATAAAACTTATACCTTCACAGAATCTTGTAGATTTGATTATAAAGAAATTAATTATATTTGTATAGTTCTATGTTGTATATTTAATATTAACTATATAATTATAATACATTCCAATTATATAATTATATATATTATTTATTCATTATATAATAATATATATTATATAAGTATAGAGAAATCTTAATAGCATACACTGAGAAACACACACACGATCAATCTCTCCAT... | TATGTTTATATGTTTAAGCATTTTATACATCCATAAATTTTGGGATAAACTTTGGCTAGAAAATCTAGCTGCTTACAAATTCACAAGCCAAGTTATAAAACTTATACCTTCACAGAATCTTGTAGATTTGATTATAAAGAAATTAATTATATTTGTATAGTTCTATGTTGTATATTTAATATTAACTATATAATTATAATACATTCCAATTATATAATTATATATATTATTTATTCATTATATAATAATATATATTATATAAGTATAGAGAAATCTTAATAGCATACACTGAGAAACACACACACGATCAATCTCTCCAT... | pathogenic | 19,192 |
The mutation impacting CFH (complement factor H) on chromosome 1 at position 196673839: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | benign | 19,202 |
Variant chromosome 1, position 196673839, gene CFH (complement factor H): benign or pathogenic? Disease(s)? | benign | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | benign | 19,203 |
Classify the chromosome 1 variant at position 196673839 affecting gene CFH (complement factor H) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | benign | 19,204 |
Determine whether the variant at chromosome 1, position 196673839, in gene CFH (complement factor H) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | ATGTTTGCTTTTCTGCTGTTTTGACTCTGTTCTTATATATATATAATCTTAAATGCTCATATATAAATGAAACAGCAGAAAAGTGAACATATATATAAGAGCTTTTATTATATATAAATAATATATATATGTATACAGCTTTTCTGCTGTTTTGACATCTGCTCTTAAATATCATCCAGAGTGACTTTCAAATATGGCATGTTTTGATGAGAATACTAGTTGTGTATTTGAGTCAGATCCATTTTCTTATTGAGACTTTTTTTCTATGAGACAACGGGAAAGTCAGTCTTCCCGTATGAAGCTACCTAGACTCTAGCAAA... | benign | 19,205 |
Is the genetic variant on chromosome 1, position 196737474, gene CFH (complement factor H), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Age_related_macular_degeneration_4', 'Basal_laminar_drusen', 'Factor_H_deficiency', 'Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1'] | GGTCACAATGTTCTTCAAATTTATTTGCCATGTCACAAAATGTTAAATAATCTCTTTCTTAATTGTTTACTATCAGCAAATACTTTAAATTAAATAATAATGATTGTGGTACACATTAAAATCAATGGGATACAGCTGAAACAGAGATGTATTTAGCATTATAACATGCATCAGAAAAAACAAATAAAAAAATAAAAGCAACAGGTACTACAATCTAGAAGGTAGACAGGAATGTACACCCAACAAAAATAGAAGGAAAGAATCATTCAAGCATAAATAGTTGACCATTAATCTTAAGAAAAATAAATTGATGAGAATGT... | GGTCACAATGTTCTTCAAATTTATTTGCCATGTCACAAAATGTTAAATAATCTCTTTCTTAATTGTTTACTATCAGCAAATACTTTAAATTAAATAATAATGATTGTGGTACACATTAAAATCAATGGGATACAGCTGAAACAGAGATGTATTTAGCATTATAACATGCATCAGAAAAAACAAATAAAAAAATAAAAGCAACAGGTACTACAATCTAGAAGGTAGACAGGAATGTACACCCAACAAAAATAGAAGGAAAGAATCATTCAAGCATAAATAGTTGACCATTAATCTTAAGAAAAATAAATTGATGAGAATGT... | pathogenic | 19,254 |
Mutation found at chromosome 1 position 196740606, gene CFH (complement factor H): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGCAGTCATTAAACCTTAAATTTCCAAGATTATCTCCTTTGACTCCATGTCTCACATTCAGGTCATGCTGATGCAAGAGATGGGCTCCCACAGCCTTGTGCAGATGTGGCTTTGTCCCCCTCCTGGTTGCTTTCATGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGAACATAGTGCAAGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTT... | GGCAGTCATTAAACCTTAAATTTCCAAGATTATCTCCTTTGACTCCATGTCTCACATTCAGGTCATGCTGATGCAAGAGATGGGCTCCCACAGCCTTGTGCAGATGTGGCTTTGTCCCCCTCCTGGTTGCTTTCATGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGAACATAGTGCAAGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTT... | benign | 19,259 |
Variant at chromosome position 197061935, chromosome 1, gene F13B (coagulation factor XIII B chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Coagulation_factor_deficiency_syndrome', 'Factor_XIII,_b_subunit,_deficiency_of'] | GGCAGCTTTTACAAGATGACCTCTTTTCCCATTTTCACTTCTGGGCATTATTCTTCTGCTTTTCCTGCTTTCTCTGCTTTCTACCTCACTATTTTGGAGATTAATTTTTACATCTGGAAATATGTGGCAAATTAAGAGAAAATATCCTTGCAAAGCTGCCAGATTGGGGTAATTAGTCCTAATAATTCCCAATAAGAAAAGTTATTCGTTATAATAAGGGATTTAAAATGTATAATAGATATTTTAAAATAATAAATTTAAAAGATATAGTCATTTACAAACTAAGACAAAACAAGATTTATTCAGGTGGGATATATTAA... | GGCAGCTTTTACAAGATGACCTCTTTTCCCATTTTCACTTCTGGGCATTATTCTTCTGCTTTTCCTGCTTTCTCTGCTTTCTACCTCACTATTTTGGAGATTAATTTTTACATCTGGAAATATGTGGCAAATTAAGAGAAAATATCCTTGCAAAGCTGCCAGATTGGGGTAATTAGTCCTAATAATTCCCAATAAGAAAAGTTATTCGTTATAATAAGGGATTTAAAATGTATAATAGATATTTTAAAATAATAAATTTAAAAGATATAGTCATTTACAAACTAAGACAAAACAAGATTTATTCAGGTGGGATATATTAA... | pathogenic | 19,414 |
Variant at chromosome 1, position 197088361, gene ASPM (assembly factor for spindle microtubules): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | CACTAATTAAATGCCATGACGGTTCACCAAAATAAATTAAATCTTTTTGCCAATAAAATCAGAAAATGTCAATCTAAATTTCCAGAAGGAGAAATTTCAAGAATCAGGGTGATTATGGGAGGACTGGAGGTTGATATTTTGGCTAAGAAGGACTTTTGGCACTTCTTAAACAGTGTAGTTTGTCTTTCATGCAAAATAAAATAAATAAAATAAAATGACAAAACTTATAACAAGCTTCTTAGCCTTAGCTCTTAACTATTTAATATAAGAAGTTTGTTGAATAACTATTAAATGTCCAAAGCTACAGTATAATGTTATTT... | CACTAATTAAATGCCATGACGGTTCACCAAAATAAATTAAATCTTTTTGCCAATAAAATCAGAAAATGTCAATCTAAATTTCCAGAAGGAGAAATTTCAAGAATCAGGGTGATTATGGGAGGACTGGAGGTTGATATTTTGGCTAAGAAGGACTTTTGGCACTTCTTAAACAGTGTAGTTTGTCTTTCATGCAAAATAAAATAAATAAAATAAAATGACAAAACTTATAACAAGCTTCTTAGCCTTAGCTCTTAACTATTTAATATAAGAAGTTTGTTGAATAACTATTAAATGTCCAAAGCTACAGTATAATGTTATTT... | pathogenic | 19,424 |
The mutation impacting ASPM (assembly factor for spindle microtubules) on chromosome 1 at position 197092013: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TGATGACTTCCATACAAGGAATACTGCGATTACAACTTCGGATCAAAACAAATATTTTAGAAATTGCTCCACTCTGGGCCATGTTCTCACAACAAAGTGGAGACAATCTAGTAACTACCTCTGAAAGAAAAAAAAAACACACACACACAGGTAAATTTACAGCAACAAAATGAAGTTTTAGCTAATAATGTAGTATTACATCATTCTTTAAACATGTTAACACAAACTAACCTAGGTGTTTTAAGGCCTCAAGAATGGCAGAAAGGTGCTTATATGTCAAAAGGTAATGAAGTGCAAGTGCAGTTCTTTTGTAGAGTTTG... | TGATGACTTCCATACAAGGAATACTGCGATTACAACTTCGGATCAAAACAAATATTTTAGAAATTGCTCCACTCTGGGCCATGTTCTCACAACAAAGTGGAGACAATCTAGTAACTACCTCTGAAAGAAAAAAAAAACACACACACACAGGTAAATTTACAGCAACAAAATGAAGTTTTAGCTAATAATGTAGTATTACATCATTCTTTAAACATGTTAACACAAACTAACCTAGGTGTTTTAAGGCCTCAAGAATGGCAGAAAGGTGCTTATATGTCAAAAGGTAATGAAGTGCAAGTGCAGTTCTTTTGTAGAGTTTG... | pathogenic | 19,446 |
Clinical significance of chromosome 1, position 197092026, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Lissencephaly', 'Microcephaly', 'Microcephaly_5,_primary,_autosomal_recessive'] | ACAAGGAATACTGCGATTACAACTTCGGATCAAAACAAATATTTTAGAAATTGCTCCACTCTGGGCCATGTTCTCACAACAAAGTGGAGACAATCTAGTAACTACCTCTGAAAGAAAAAAAAAACACACACACACAGGTAAATTTACAGCAACAAAATGAAGTTTTAGCTAATAATGTAGTATTACATCATTCTTTAAACATGTTAACACAAACTAACCTAGGTGTTTTAAGGCCTCAAGAATGGCAGAAAGGTGCTTATATGTCAAAAGGTAATGAAGTGCAAGTGCAGTTCTTTTGTAGAGTTTGTTTTCTTCTCGAA... | ACAAGGAATACTGCGATTACAACTTCGGATCAAAACAAATATTTTAGAAATTGCTCCACTCTGGGCCATGTTCTCACAACAAAGTGGAGACAATCTAGTAACTACCTCTGAAAGAAAAAAAAAACACACACACACAGGTAAATTTACAGCAACAAAATGAAGTTTTAGCTAATAATGTAGTATTACATCATTCTTTAAACATGTTAACACAAACTAACCTAGGTGTTTTAAGGCCTCAAGAATGGCAGAAAGGTGCTTATATGTCAAAAGGTAATGAAGTGCAAGTGCAGTTCTTTTGTAGAGTTTGTTTTCTTCTCGAA... | pathogenic | 19,447 |
The mutation impacting ASPM (assembly factor for spindle microtubules) on chromosome 1 at position 197100538: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | ATTGTTATTTTGGCTATTTAATCATTTTAAGTGAATAAAACCATAACTAATACATCCAATGAACACCTTTCAATTGTGAACTTCTCAGTAGTGTTAGGAATTTGATACCATAATCTCTTACCTTTCTTCTTTCCCTCTTAACACCTTGGTTTCTTGATACCATTAATCTCTTACCTTTCTTCTTTCCCTCTTAACACCTTGTTGGCTTCTCTTGTCAATGTCTGTGAATTTTGATGTTCTTCAGGGCTCAAGTCCCAGGCCCTCTTTGTTCACTCATTTTATGTATTGTTCCTTGGTGATCTCATTATTCCCAGAACTTT... | ATTGTTATTTTGGCTATTTAATCATTTTAAGTGAATAAAACCATAACTAATACATCCAATGAACACCTTTCAATTGTGAACTTCTCAGTAGTGTTAGGAATTTGATACCATAATCTCTTACCTTTCTTCTTTCCCTCTTAACACCTTGGTTTCTTGATACCATTAATCTCTTACCTTTCTTCTTTCCCTCTTAACACCTTGTTGGCTTCTCTTGTCAATGTCTGTGAATTTTGATGTTCTTCAGGGCTCAAGTCCCAGGCCCTCTTTGTTCACTCATTTTATGTATTGTTCCTTGGTGATCTCATTATTCCCAGAACTTT... | pathogenic | 19,460 |
A mutation at chromosome position 197100743 on chromosome 1 in gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['ASPM-related_disorder', 'Microcephaly_5,_primary,_autosomal_recessive'] | CTTCTCTTGTCAATGTCTGTGAATTTTGATGTTCTTCAGGGCTCAAGTCCCAGGCCCTCTTTGTTCACTCATTTTATGTATTGTTCCTTGGTGATCTCATTATTCCCAGAACTTTAATTATTAGCATATGCCCATAATGTACAAATCAAATTCTAATACTCACACTACTCTCCTGAACTCCAGACAAACATAGTCAACTGCCTTACTAGATATTTCAAGGGGGTTACCTGCTAGGTACTTCAGATCTTATATACTCCAAACTGAATTCATCATCAATCTCAAAACCTGCTCTTCCCTCTTTATTCCCTATGTCAGGGTGT... | CTTCTCTTGTCAATGTCTGTGAATTTTGATGTTCTTCAGGGCTCAAGTCCCAGGCCCTCTTTGTTCACTCATTTTATGTATTGTTCCTTGGTGATCTCATTATTCCCAGAACTTTAATTATTAGCATATGCCCATAATGTACAAATCAAATTCTAATACTCACACTACTCTCCTGAACTCCAGACAAACATAGTCAACTGCCTTACTAGATATTTCAAGGGGGTTACCTGCTAGGTACTTCAGATCTTATATACTCCAAACTGAATTCATCATCAATCTCAAAACCTGCTCTTCCCTCTTTATTCCCTATGTCAGGGTGT... | pathogenic | 19,461 |
Variant on chromosome 1, at position 197101052, affecting ASPM (assembly factor for spindle microtubules): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | TGTCAGGGTGTGAGGGAGTAACTCTGCTGAGTTACTTAAGCCATCAACATGGCTTGCCTCCTTGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTG... | TGTCAGGGTGTGAGGGAGTAACTCTGCTGAGTTACTTAAGCCATCAACATGGCTTGCCTCCTTGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTG... | pathogenic | 19,464 |
Does the variant on chromosome 1 at location 197101058 affecting gene ASPM (assembly factor for spindle microtubules) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Microcephaly_5,_primary,_autosomal_recessive'] | GGTGTGAGGGAGTAACTCTGCTGAGTTACTTAAGCCATCAACATGGCTTGCCTCCTTGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTGTCTTAA... | GGTGTGAGGGAGTAACTCTGCTGAGTTACTTAAGCCATCAACATGGCTTGCCTCCTTGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTGTCTTAA... | pathogenic | 19,465 |
Variant chromosome 1, position 197101114, gene ASPM (assembly factor for spindle microtubules): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_5,_primary,_autosomal_recessive'] | TGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTGTCTTAAAAATCTATCCACAATCTTACTCCCTCTATTGCCAACCTGGTCCCATATCACTTTTT... | TGTTCATGCTCTATATAATGCCAACTTACAATCCCATTGTCACAAACCTACACTGAACTATAACTCTTTCTCACCTGGCTTACTGCCTATTTTCATTTGGTCTACCTGATTCTAGTCTTGCTCCTTTTCCAGTCCATCTTCCACATTCCTGCCAGAGTAATTTTTTTTTTTTTTTTAATAAAAATGACTGTGGTCTTCTCCTGCTTAAACTCCTCTAGAATTTGTTTTGTCTGGAGCATAAAGACTAAATTTTTTCTGTCTTAAAAATCTATCCACAATCTTACTCCCTCTATTGCCAACCTGGTCCCATATCACTTTTT... | pathogenic | 19,468 |
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