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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 2, position 214792458, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | benign | 55,639 |
The genetic variant at chromosome 2, position 214792458, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | CTTTAAAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATT... | benign | 55,640 |
Considering the genetic mutation at chromosome 2, position 214792463, impacting BARD1 (BRCA1 associated RING domain 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATTTCAGT... | AAAAGGGGGAGATTTGACACAAACAAGGAGAAAACCATGTTAACATAATGATGGCCATCTACAAGACAAGGAGACTGGCCTAAAACAGGTTCTGTCTCACAGACCTCAACAAAGAACCAACCTTGCATACACTTTCATCTCAGACTTCCAGTGTCTGGAATTGTGAGACAATAAATATCTGTTGTTTAAGCCACTCAGTTTGTGATACTTTGTTACAGCAGTTCTAGCAAATGAATACATTACTATACAGCAACTGGTGAAGAACCAAATCAAAATATCATCATAGCCACAAATCCCAAAGTAGCACTCCAAATTTCAGT... | benign | 55,642 |
Variant at chromosome position 214796992, chromosome 2, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTGATTGGTTGTTTTAAGTCACAGAGTCCTTTAGAATCTGATTAAACGTATGGATCCCCCACCCCACCACACACACAAACCAACTTTGCATAAAATGTCATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATA... | TTGATTGGTTGTTTTAAGTCACAGAGTCCTTTAGAATCTGATTAAACGTATGGATCCCCCACCCCACCACACACACAAACCAACTTTGCATAAAATGTCATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATA... | benign | 55,646 |
The chromosome 2, position 214797000 genetic variant in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTGTTTTAAGTCACAGAGTCCTTTAGAATCTGATTAAACGTATGGATCCCCCACCCCACCACACACACAAACCAACTTTGCATAAAATGTCATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATT... | TTGTTTTAAGTCACAGAGTCCTTTAGAATCTGATTAAACGTATGGATCCCCCACCCCACCACACACACAAACCAACTTTGCATAAAATGTCATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATT... | benign | 55,647 |
Variant on chromosome 2, at position 214797091, affecting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATTTCACGTGGAAGAAATAGCAAGTGCCAAAGTCCTGGGGCGGGAGTGAATTTGGTGTATTGAATGAGCTAAAAGGAGAAGTGCTGGAACAGTG... | ATGGAGTTCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATTTCACGTGGAAGAAATAGCAAGTGCCAAAGTCCTGGGGCGGGAGTGAATTTGGTGTATTGAATGAGCTAAAAGGAGAAGTGCTGGAACAGTG... | pathogenic | 55,658 |
Does the variant on chromosome 2 at location 214797098 affecting gene BARD1 (BRCA1 associated RING domain 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATTTCACGTGGAAGAAATAGCAAGTGCCAAAGTCCTGGGGCGGGAGTGAATTTGGTGTATTGAATGAGCTAAAAGGAGAAGTGCTGGAACAGTGTGAGCCA... | TCATTATGCTCTAGCAGCTTTGTGACTGACCTATTGTATACAGTGAGCAAACCCATCATCTGTCAGCTGAAACAAAATACATCTGCTTGCTACAGAGTGGGGACAGGGAGTGGGCATCATTTCGTAAGCAGATCCATGGGAGGCGTTTTGGAGGCAGTGACATTTCAGCTGATATATAACTGGTAAAAAGTAAGCCTCACAGAAATCTGGCATAAGTACATTTCACGTGGAAGAAATAGCAAGTGCCAAAGTCCTGGGGCGGGAGTGAATTTGGTGTATTGAATGAGCTAAAAGGAGAAGTGCTGGAACAGTGTGAGCCA... | pathogenic | 55,660 |
Chromosome 2, position 214809401, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAATATTTGGTAGGGGATAAAAAGTGAAACCGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTT... | GAAAAATATTTGGTAGGGGATAAAAAGTGAAACCGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTT... | pathogenic | 55,680 |
A genetic variant at chromosome 2, position 214809412, affecting gene BARD1 (BRCA1 associated RING domain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTAGGGGATAAAAAGTGAAACCGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAA... | GGTAGGGGATAAAAAGTGAAACCGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAA... | pathogenic | 55,685 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 214809434, gene BARD1 (BRCA1 associated RING domain 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAG... | CGGCTTTGTTATTTTTCAGGACAACATATATTCATATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAG... | pathogenic | 55,693 |
Clinically, how would you classify the variant at chromosome 2, position 214809468, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGA... | TATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGA... | pathogenic | 55,710 |
Evaluate the clinical significance of the mutation at chromosome 2, position 214809469 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAG... | ATATATTATCTATTTTGTCTCTCCCAAATCATGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAG... | pathogenic | 55,711 |
Assess the variant on chromosome 2, position 214809500, impacting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAGAGATGAATAACTTGGCCTACTCAATAGTGTC... | TGTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAGAGATGAATAACTTGGCCTACTCAATAGTGTC... | pathogenic | 55,724 |
Does the variant impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2, position 214809501, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAGAGATGAATAACTTGGCCTACTCAATAGTGTCA... | GTAGCAAGCAAACACCACATTCTTTTAGATTAAGACACACATTATTTATCATTTATTCTATCACAACCACCAAACTCAATACTTTACATACATGTAAAATTTCATTTTGTTTCTTCCATAAAAGCTCCCTAAGAGATGGAATTTATTGTCTGCTTTGTTCACTAACAAATCCCCAATACCCAGAATAGGGTCTGGCACTTTATGGGTGCTCAATAAATTTATGATTATTAATGAATCCTCACAAGAAAATAAGCTAATCATTAGTATTACTCATATCCGGAAAATGAGAGATGAATAACTTGGCCTACTCAATAGTGTCA... | pathogenic | 55,725 |
Is chromosome 2, position 214945020, gene ABCA12 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_4A', 'Autosomal_recessive_congenital_ichthyosis_4B'] | CACCATAATGGCCAACCTGGTACAGAGAGCTTCACATTCTTCCATGCTAAAAGACAAAGCAGGATCATATTAGCATTCAGGATACAGAAAACTTGGGTTGAAGTTCATGAGCATAAGCATAATTGTTTCATTATGGCACTTGGAAATACTATTTTAGTTTTTTTCTTTTCTTTGTTATTTTTTTGAGATAGGGTGTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCTTGAACATGGCTTACTGTAGCCTTGACCTCCTTTGCTCTAGTAATCCTCCTGTCTCAGCCTCCTGAATAGCTGGGACGACAGATGTGCACGAC... | CACCATAATGGCCAACCTGGTACAGAGAGCTTCACATTCTTCCATGCTAAAAGACAAAGCAGGATCATATTAGCATTCAGGATACAGAAAACTTGGGTTGAAGTTCATGAGCATAAGCATAATTGTTTCATTATGGCACTTGGAAATACTATTTTAGTTTTTTTCTTTTCTTTGTTATTTTTTTGAGATAGGGTGTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCTTGAACATGGCTTACTGTAGCCTTGACCTCCTTTGCTCTAGTAATCCTCCTGTCTCAGCCTCCTGAATAGCTGGGACGACAGATGTGCACGAC... | pathogenic | 55,757 |
Variant chromosome 2, position 214949143, gene ABCA12: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_4A', 'Autosomal_recessive_congenital_ichthyosis_4B'] | AGATGCTACCATATTCCGTAACTTACTCATTTGAGTACCCTGAATTTGTTTCACTTCCCATTTCCATGCCAGTGTTTCCTTGGAAACGCACTAAGCTATTGCTTTCAGATAAAACATTTTTGAGAGCATATTGTTGTGGTAACAAATTATTTGCTGATATAAAATCCTTTATTGAGATAGTATACATAAAGTGCTTTGCACAATAGCTAGCACATAGTGAGACCTCAATAAATGTTGACTGCAATCATGATGATGAAATGTTAACACATGCAATCAGATATGCTGTTCTAATTATGGAGTGGCCTGTTTAAATAATGATT... | AGATGCTACCATATTCCGTAACTTACTCATTTGAGTACCCTGAATTTGTTTCACTTCCCATTTCCATGCCAGTGTTTCCTTGGAAACGCACTAAGCTATTGCTTTCAGATAAAACATTTTTGAGAGCATATTGTTGTGGTAACAAATTATTTGCTGATATAAAATCCTTTATTGAGATAGTATACATAAAGTGCTTTGCACAATAGCTAGCACATAGTGAGACCTCAATAAATGTTGACTGCAATCATGATGATGAAATGTTAACACATGCAATCAGATATGCTGTTCTAATTATGGAGTGGCCTGTTTAAATAATGATT... | pathogenic | 55,763 |
Variant on chromosome 2, at position 214978319, affecting ABCA12 (ATP binding cassette subfamily A member 12): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_4A', 'Autosomal_recessive_congenital_ichthyosis_4B'] | TTCTAATTCACTATACACAAAATAGTATTAATCACAGGCATAGTAATTTTACATGTCAAAGTTAGATACCTAGAATTTCATAAATGAATATTGACCTCAAACCCTAAAGTCTCAATGCAGACCCAGTATATATTACTAATACTCAAGAGATAGTTTCTATGAAGAGACTAAATACATGTGAGACAAATACAAACTCAAACACCAACCTAATCTAACAATTTGTTCCTATTGTGAGTAACTTAGTGACTGTAAGTCTAATTGGCTCTGATTCTAACATGAGGTCCAATTAATTCACACTAAGAGTAGGAAAAGGGAAATCC... | TTCTAATTCACTATACACAAAATAGTATTAATCACAGGCATAGTAATTTTACATGTCAAAGTTAGATACCTAGAATTTCATAAATGAATATTGACCTCAAACCCTAAAGTCTCAATGCAGACCCAGTATATATTACTAATACTCAAGAGATAGTTTCTATGAAGAGACTAAATACATGTGAGACAAATACAAACTCAAACACCAACCTAATCTAACAATTTGTTCCTATTGTGAGTAACTTAGTGACTGTAAGTCTAATTGGCTCTGATTCTAACATGAGGTCCAATTAATTCACACTAAGAGTAGGAAAAGGGAAATCC... | pathogenic | 55,789 |
Considering the genetic mutation at chromosome 2, position 215011497, impacting ABCA12 (ATP binding cassette subfamily A member 12): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | AACTTAAAATAAAAGTTAAAAAAAATCAACAAATAATTGTTTATTTAAATTGAAAAACAAAGTTCATATATAACTCAATTTATGCAAAACTACATAGGAATATATAGTCAGTAAAGCAAATAAGGTATTAAATCACAGTTTTTATAAAAATGGACAGAGATTAAATTGAATATTCTTTGATAATAATGATCGCTGTCCATTATTCTGTAGCATATAAAAATAATGTTATGTTCATATAATTATAGTTGAATGGCCAAGTAATGGTAAAACAGAGATTTTTCTTTTACTTTAGCTCCGTCATTTTAAAAGTACTAGGTTTA... | AACTTAAAATAAAAGTTAAAAAAAATCAACAAATAATTGTTTATTTAAATTGAAAAACAAAGTTCATATATAACTCAATTTATGCAAAACTACATAGGAATATATAGTCAGTAAAGCAAATAAGGTATTAAATCACAGTTTTTATAAAAATGGACAGAGATTAAATTGAATATTCTTTGATAATAATGATCGCTGTCCATTATTCTGTAGCATATAAAAATAATGTTATGTTCATATAATTATAGTTGAATGGCCAAGTAATGGTAAAACAGAGATTTTTCTTTTACTTTAGCTCCGTCATTTTAAAAGTACTAGGTTTA... | pathogenic | 55,823 |
A mutation at chromosome position 215019409 on chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_4A', 'Autosomal_recessive_congenital_ichthyosis_4B'] | ATATGAAGAAATGACATTATTCATTTTCACATCAAAAAATATTTACTACAACCACAAACTTACCCTTAGTTCCCTTGACCACATCTATTGTATATGCTATGTCTTGCTGTACGACTTTTAAAAAGTAAAAATGGATATCCATTTTAATTTTAGTTGCAAGCAATAGTAAGTAGTCTCCATACATTTTCCCCCAATTAGGTTACTGAAGTTTGACTTTGATAGCATTTGAGTAGGTACAAATTCACCTCATACAATGTAATTGCGACAGTGAATATAATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG... | ATATGAAGAAATGACATTATTCATTTTCACATCAAAAAATATTTACTACAACCACAAACTTACCCTTAGTTCCCTTGACCACATCTATTGTATATGCTATGTCTTGCTGTACGACTTTTAAAAAGTAAAAATGGATATCCATTTTAATTTTAGTTGCAAGCAATAGTAAGTAGTCTCCATACATTTTCCCCCAATTAGGTTACTGAAGTTTGACTTTGATAGCATTTGAGTAGGTACAAATTCACCTCATACAATGTAATTGCGACAGTGAATATAATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG... | pathogenic | 55,834 |
Does the variant on chromosome 2 at location 215361645 affecting gene ATIC have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCTGGGTCTGTATTTCGCTAAGGAAACCTCATCTGAGCTTCATGCCCTGTAAAATTAAGCTCTAAAACCTCCCCTAAATGAGATAGCTAAATGTCAAAGCATTTTATAAACTGTAAATCAATTCAAATGGGAGTTAGTATTTTTTTTTTTCAAATGAACATGAGGAAGTATCTTTCTGTATTTAGTTTTAATATTCTTTGCCAGGTGTTTATTGAAATACCTTCTTTCATTGTACATTAGTATATTTAAAAAGTGCTTTGCATGTCTTGTTTATTATGAACTACTAATTTTTTACTAATAATTATTTCCATTTCCACTAT... | GCTGGGTCTGTATTTCGCTAAGGAAACCTCATCTGAGCTTCATGCCCTGTAAAATTAAGCTCTAAAACCTCCCCTAAATGAGATAGCTAAATGTCAAAGCATTTTATAAACTGTAAATCAATTCAAATGGGAGTTAGTATTTTTTTTTTTCAAATGAACATGAGGAAGTATCTTTCTGTATTTAGTTTTAATATTCTTTGCCAGGTGTTTATTGAAATACCTTCTTTCATTGTACATTAGTATATTTAAAAAGTGCTTTGCATGTCTTGTTTATTATGAACTACTAATTTTTTACTAATAATTATTTCCATTTCCACTAT... | benign | 55,888 |
Chromosome 2, position 215375403, gene FN1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTGATTATTCTTCAGGGCAATGACATAAATTGTATATTCGGTTCCCGGTTCCAGGCCTGAAGGGAGAATAGAACCATCACATTATGTCAATGGGCTCAGCTAGTCAAGTGGAAGTCGGTCTCACCAGCAGACGCTACTGGGAGCAGGCACTTCCTCTCCAGCTGGCTGTTGGCCTCTTGAAGGTAAAATCGACTTCACTTTTCCTCCATAAACACCCAAATATCCTGCATATAAAGTCCGCATCGCAAACTAATTATCTTACTATCATATCTGACGCCTGAATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTT... | TCTGATTATTCTTCAGGGCAATGACATAAATTGTATATTCGGTTCCCGGTTCCAGGCCTGAAGGGAGAATAGAACCATCACATTATGTCAATGGGCTCAGCTAGTCAAGTGGAAGTCGGTCTCACCAGCAGACGCTACTGGGAGCAGGCACTTCCTCTCCAGCTGGCTGTTGGCCTCTTGAAGGTAAAATCGACTTCACTTTTCCTCCATAAACACCCAAATATCCTGCATATAAAGTCCGCATCGCAAACTAATTATCTTACTATCATATCTGACGCCTGAATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTT... | benign | 55,927 |
The mutation in gene FN1 (fibronectin 1) at chromosome 2, position 215406519—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAA... | CTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAA... | benign | 56,008 |
A genetic alteration at chromosome 2, position 215410130, in gene FN1 (fibronectin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | benign | 56,024 |
Variant in gene FN1 (fibronectin 1), located at chromosome 2 position 215410130: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | benign | 56,025 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 215410130, gene FN1 (fibronectin 1). What disease(s) is it linked to if pathogenic? | benign | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | benign | 56,026 |
Variant at chromosome 2, position 215410130, gene FN1 (fibronectin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | benign | 56,027 |
Evaluate if the mutation on chromosome 2 at position 215410130 in FN1 (fibronectin 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | GCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGATAGACATTTACAATGTATTTTCGGCCAGGAAGCAGGTCAGGGATGTTC... | benign | 56,028 |
Variant in SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), chromosome 2, position 216414828—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | CCGCTTACCTTGAGGCTGGGTGAGGCTCGCCCCGAAATGCGGGGCGTGGGGGGCGGGGGGCAGAGGTCCCTGCCTAGAGGGGAAGAGGGGCGTCCATGTGGCGGAATGGATTTATGGTTTGGGGCTGATCAGTGGGTCTTATGGCCGAGTCTCTCTGGTTAGTGGAGACAGCTTACCAGGCCTGGGATCTGGGGAGTTTGGAGGTGCAGGAGATCCCTGGTTGGAAACTTAGGCAGGAGTGTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCT... | CCGCTTACCTTGAGGCTGGGTGAGGCTCGCCCCGAAATGCGGGGCGTGGGGGGCGGGGGGCAGAGGTCCCTGCCTAGAGGGGAAGAGGGGCGTCCATGTGGCGGAATGGATTTATGGTTTGGGGCTGATCAGTGGGTCTTATGGCCGAGTCTCTCTGGTTAGTGGAGACAGCTTACCAGGCCTGGGATCTGGGGAGTTTGGAGGTGCAGGAGATCCCTGGTTGGAAACTTAGGCAGGAGTGTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCT... | pathogenic | 56,111 |
The mutation impacting SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) on chromosome 2 at position 216414952: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | CTGATCAGTGGGTCTTATGGCCGAGTCTCTCTGGTTAGTGGAGACAGCTTACCAGGCCTGGGATCTGGGGAGTTTGGAGGTGCAGGAGATCCCTGGTTGGAAACTTAGGCAGGAGTGTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTG... | CTGATCAGTGGGTCTTATGGCCGAGTCTCTCTGGTTAGTGGAGACAGCTTACCAGGCCTGGGATCTGGGGAGTTTGGAGGTGCAGGAGATCCCTGGTTGGAAACTTAGGCAGGAGTGTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTG... | pathogenic | 56,115 |
Does the variant impacting SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) on chromosome 2, position 216415068, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGT... | GTGTTACCCAGAGAGACTGAGGGCTTCTGCTGTGCACCTCCAAAACCTTTTCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGT... | pathogenic | 56,119 |
Gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) variant at chromosome position 216415118 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | TCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAA... | TCCTAACCTCTTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAA... | pathogenic | 56,120 |
Considering the variant on chromosome 2, location 216415128, involving gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | TTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAAATAAATGTTC... | TTCACCCCTTCCTAACTGCTAATGGTTGGAGAAGGTGGAAGTTCTCTGGGGATAGATACTTCGTGGTGGGGGAGGGGGGAGGGGGGTTGGGTTCTGGCCAAAGGGAGCCCCAGCAGGGAAGGAAGGCTTTGAACCCTATAGCTGCCCAGAGGCCTAAGCAATGCTACTGGAGTACCCCTACATCATCATTGTAACCGTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAAATAAATGTTC... | pathogenic | 56,122 |
For chromosome 2, position 216415324, gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAAATAAATGTTCCGGGTAAATTCATGGAAAAAAATAATCAGGGTGCAATATGGAATGTTTACAATGATCCTACTTTATAATAAATTCTTATATCTCCTAAATATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATT... | GTTACACAGCATTACATTAGATGCAGCCTATTTAGTCTGAACCAAGCCAGACAAATTGGTGTGTCCTGCCCGCTGCTTCTAAAATATTGTAAACATGTCTCAGCTCATAGGAAAATAAATGTTCCGGGTAAATTCATGGAAAAAAATAATCAGGGTGCAATATGGAATGTTTACAATGATCCTACTTTATAATAAATTCTTATATCTCCTAAATATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATT... | pathogenic | 56,124 |
Does the variant on chromosome 2 at location 216415538 affecting gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATTCTTTTTTGTTTACATCTTTATGTAGCATCTTAATTTGCACAGTGAACACATAATTTTTTTTTTTCTGCTCCTTATTTTCCCAGGAGAGTCAGTCAGTTGCTCCGTGTGTTGTGTTGGAAGTCAGGTCCTAAGGCCAGCTGCTCTGGCTTGCACTGAGCCACAGGCAGACTGATTTGCCAGGAATGATAAAAAGGGGTGAATGTGAGGGGAGAAT... | ATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATTCTTTTTTGTTTACATCTTTATGTAGCATCTTAATTTGCACAGTGAACACATAATTTTTTTTTTTCTGCTCCTTATTTTCCCAGGAGAGTCAGTCAGTTGCTCCGTGTGTTGTGTTGGAAGTCAGGTCCTAAGGCCAGCTGCTCTGGCTTGCACTGAGCCACAGGCAGACTGATTTGCCAGGAATGATAAAAAGGGGTGAATGTGAGGGGAGAAT... | benign | 56,128 |
The genetic variant at chromosome 2, position 216415538, affecting gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATTCTTTTTTGTTTACATCTTTATGTAGCATCTTAATTTGCACAGTGAACACATAATTTTTTTTTTTCTGCTCCTTATTTTCCCAGGAGAGTCAGTCAGTTGCTCCGTGTGTTGTGTTGGAAGTCAGGTCCTAAGGCCAGCTGCTCTGGCTTGCACTGAGCCACAGGCAGACTGATTTGCCAGGAATGATAAAAAGGGGTGAATGTGAGGGGAGAAT... | ATGTGCCATTTTGTTATGGATGAAAAAAAATCCGAACTATATACTCTAAATTATTAATTTCAACTGTGGTTATTGATGGCTGGTAAGATTACAGAGTAATTTTATTCTTTTTTGTTTACATCTTTATGTAGCATCTTAATTTGCACAGTGAACACATAATTTTTTTTTTTCTGCTCCTTATTTTCCCAGGAGAGTCAGTCAGTTGCTCCGTGTGTTGTGTTGGAAGTCAGGTCCTAAGGCCAGCTGCTCTGGCTTGCACTGAGCCACAGGCAGACTGATTTGCCAGGAATGATAAAAAGGGGTGAATGTGAGGGGAGAAT... | benign | 56,129 |
Mutation found at chromosome 2 position 216416427, gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACACCCGACCTGCTTTTTGCTTTTTGATCAGGGTCTTTATTTCAGCATATGCTGCCTACTATTTCAGTGTGTGTGCAATTATAAAAGAAACTTTAATACATCCTTTAGTTGTGCTCATTATGCATTTTCTGGGACAAAAGCTTGTTAAAATCATGGTTGGAGTATGACAATTAATACATGTAATGTTCATTTCATTCTTCTTACTTTCTTCCACAGCTTTTGCCAACTTTCCAATTAAAGGTTGACATTCCTGCATAAGCATTTCTCT... | ACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACACCCGACCTGCTTTTTGCTTTTTGATCAGGGTCTTTATTTCAGCATATGCTGCCTACTATTTCAGTGTGTGTGCAATTATAAAAGAAACTTTAATACATCCTTTAGTTGTGCTCATTATGCATTTTCTGGGACAAAAGCTTGTTAAAATCATGGTTGGAGTATGACAATTAATACATGTAATGTTCATTTCATTCTTCTTACTTTCTTCCACAGCTTTTGCCAACTTTCCAATTAAAGGTTGACATTCCTGCATAAGCATTTCTCT... | benign | 56,134 |
Does the variant impacting SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) on chromosome 2, position 216420321, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | AAAATTCTCCATATATACTTCTCAATGAAGCTCATAGAAGAGAAAAAAAATTCTCCATATAGCTTTCAGATGAATTTTTCTAATTGTTTGGCTCCTCTGCATCTTTACCAATGTGTTACACACTTGAGCTTTTGCCTGCTGAGATAAACCTTGAAATTCCTTGCCATAATTATGGATTTGTGAATTTCTCCTTGTATTTCTAAGTTTCAGATAGGTTCATGATTGTGTCTCATGATTGGCTTTTTATTGGTATAACATATAAAATTGTCTCTGTGTCAGTCTTTCTGTCATTTTGCTTTAGGTATATCTCTGGATTTGGC... | AAAATTCTCCATATATACTTCTCAATGAAGCTCATAGAAGAGAAAAAAAATTCTCCATATAGCTTTCAGATGAATTTTTCTAATTGTTTGGCTCCTCTGCATCTTTACCAATGTGTTACACACTTGAGCTTTTGCCTGCTGAGATAAACCTTGAAATTCCTTGCCATAATTATGGATTTGTGAATTTCTCCTTGTATTTCTAAGTTTCAGATAGGTTCATGATTGTGTCTCATGATTGGCTTTTTATTGGTATAACATATAAAATTGTCTCTGTGTCAGTCTTTCTGTCATTTTGCTTTAGGTATATCTCTGGATTTGGC... | pathogenic | 56,138 |
Evaluate if the mutation on chromosome 2 at position 216423632 in SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | TGGCCGTTTTGCTTTAGTTTTTCATGAGGTTCTTCATAAGCTCCCCCTTCAGAATAGGGGAGAAGCAGCTATAGATTCTGGACTCCTGGGTGTCATTCTCAGCTTGGGCCACATTGTTTTTTAAAAACGATGTAGTTTTTATGGATCAGTGTTTCCCCATTCTTGAATTGGTTTAATCTTGTTCTTAATCAAGTAGAACTCAAATACTTAAAACCTCATGCCTTTGAGACCTCACATTCAAGCATTGTCCTGGAAGAAGCCTCTAGAATTGCTTGCTTAACAAGAGCTTTCATCAGGGTTTGGGTTCCGGAGGAGGCTGA... | TGGCCGTTTTGCTTTAGTTTTTCATGAGGTTCTTCATAAGCTCCCCCTTCAGAATAGGGGAGAAGCAGCTATAGATTCTGGACTCCTGGGTGTCATTCTCAGCTTGGGCCACATTGTTTTTTAAAAACGATGTAGTTTTTATGGATCAGTGTTTCCCCATTCTTGAATTGGTTTAATCTTGTTCTTAATCAAGTAGAACTCAAATACTTAAAACCTCATGCCTTTGAGACCTCACATTCAAGCATTGTCCTGGAAGAAGCCTCTAGAATTGCTTGCTTAACAAGAGCTTTCATCAGGGTTTGGGTTCCGGAGGAGGCTGA... | pathogenic | 56,146 |
Located at chromosome 2 position 216423680, the variant affecting gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inherited_Immunodeficiency_Diseases', 'Schimke_immuno-osseous_dysplasia'] | TCAGAATAGGGGAGAAGCAGCTATAGATTCTGGACTCCTGGGTGTCATTCTCAGCTTGGGCCACATTGTTTTTTAAAAACGATGTAGTTTTTATGGATCAGTGTTTCCCCATTCTTGAATTGGTTTAATCTTGTTCTTAATCAAGTAGAACTCAAATACTTAAAACCTCATGCCTTTGAGACCTCACATTCAAGCATTGTCCTGGAAGAAGCCTCTAGAATTGCTTGCTTAACAAGAGCTTTCATCAGGGTTTGGGTTCCGGAGGAGGCTGATGCTGGTTGCTACGTCATCATCCTTAGATGGATGCAGTTTGGACTGAT... | TCAGAATAGGGGAGAAGCAGCTATAGATTCTGGACTCCTGGGTGTCATTCTCAGCTTGGGCCACATTGTTTTTTAAAAACGATGTAGTTTTTATGGATCAGTGTTTCCCCATTCTTGAATTGGTTTAATCTTGTTCTTAATCAAGTAGAACTCAAATACTTAAAACCTCATGCCTTTGAGACCTCACATTCAAGCATTGTCCTGGAAGAAGCCTCTAGAATTGCTTGCTTAACAAGAGCTTTCATCAGGGTTTGGGTTCCGGAGGAGGCTGATGCTGGTTGCTACGTCATCATCCTTAGATGGATGCAGTTTGGACTGAT... | pathogenic | 56,148 |
Determine if the mutation at chromosome 2, position 216428582 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATCATGACAGTGTCTCACGGAAGATAAGACTGAGAAAAGGTTGGGCCCAGAGAAGGGAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGAT... | ATCATGACAGTGTCTCACGGAAGATAAGACTGAGAAAAGGTTGGGCCCAGAGAAGGGAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGAT... | benign | 56,149 |
Gene mutation in SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) at chromosome 2, position 216428637—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GGAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGATCGATGACCCTGAGTTAGTGAACGTGTGCATAGGAAACTGATGAAGAAATGACAAT... | GGAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGATCGATGACCCTGAGTTAGTGAACGTGTGCATAGGAAACTGATGAAGAAATGACAAT... | pathogenic | 56,150 |
Mutation at chromosome 2, position 216428638, within SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGATCGATGACCCTGAGTTAGTGAACGTGTGCATAGGAAACTGATGAAGAAATGACAATA... | GAAACAGTGGCTTTCCTTACTGGGAGCATTGCAAGGTTACAGTAAAGTCAGTGACAGAAATAAGAGTAAAATTGCCATCTGCCTTTGTAAAATGACCCATTATGGAATTTAGAAGCCAGCTAAACTAAGAAGCTGGGAGTGGAAGCAGTGAGAATAGAGCCCAGTTCCAATTTAGTTCTGATTTCTCCGCCAGTACTGTGAACCTGGGGAATGCGCACCTCCTTCCTCACCCCATGCTGTCCTTCCTCATGAGTGAAATTAGATCGATGACCCTGAGTTAGTGAACGTGTGCATAGGAAACTGATGAAGAAATGACAATA... | pathogenic | 56,151 |
The mutation in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) at chromosome 2, position 216432818—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | CAAAGGGCGTGGGGCTCTCCATGGATTCCGTTGCTTAGGTACTGCCTGTCCTCGCTGGCCACCAATTTTGTAAATCAGAAAGTGAGGTAAAAAATACATCTTTTCACACCTGCCCTCCCCCCATCTGTCTGTGTTGTGGGTTGATCCCAGAAATGGTCCAGAAGATTTCATAGAGGTGGGTGTACAGGGAGGAGGCTGCGCCTGTTCTGGAGAGGTGAGGCAGCCCACTGCTCGGCTCCGTTCCTCCCCAGTGGAGGGTGAGGCCGCCAAAGCTGGGCTTTGGGAAGGGCTGCCCCCTCTCCTAGGCAGGCCCCCGCCCA... | CAAAGGGCGTGGGGCTCTCCATGGATTCCGTTGCTTAGGTACTGCCTGTCCTCGCTGGCCACCAATTTTGTAAATCAGAAAGTGAGGTAAAAAATACATCTTTTCACACCTGCCCTCCCCCCATCTGTCTGTGTTGTGGGTTGATCCCAGAAATGGTCCAGAAGATTTCATAGAGGTGGGTGTACAGGGAGGAGGCTGCGCCTGTTCTGGAGAGGTGAGGCAGCCCACTGCTCGGCTCCGTTCCTCCCCAGTGGAGGGTGAGGCCGCCAAAGCTGGGCTTTGGGAAGGGCTGCCCCCTCTCCTAGGCAGGCCCCCGCCCA... | pathogenic | 56,159 |
A genetic variant on chromosome 2, position 216447137, affects the gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GGGAGTTCACTGTAAACTGTTCAATTTGGTGTTGATTTATGTAGTTTTATAGATTTCTGTTTTCCTAGATTTGGAAGTTTTCAGAAGTGGAGGGTGACATATGACACCTTTGCAGCTGGGCATGTGTTAAAAGCCCTTGTGGGTGATCGTGATGACATACACACATGTTGGGGCTGAGCTGGGAGCAGGCCAAATCACCCCATTACAGACGAGATGCCATTCTGGTTTCTTTTTCAAAGCTGGACTTTTTCTTTTTTTGTAATGCTGCCTCTGCCTTTTTGATGCCCACAAACACCCATTGGCAACGCTCCCATCACTCT... | GGGAGTTCACTGTAAACTGTTCAATTTGGTGTTGATTTATGTAGTTTTATAGATTTCTGTTTTCCTAGATTTGGAAGTTTTCAGAAGTGGAGGGTGACATATGACACCTTTGCAGCTGGGCATGTGTTAAAAGCCCTTGTGGGTGATCGTGATGACATACACACATGTTGGGGCTGAGCTGGGAGCAGGCCAAATCACCCCATTACAGACGAGATGCCATTCTGGTTTCTTTTTCAAAGCTGGACTTTTTCTTTTTTTGTAATGCTGCCTCTGCCTTTTTGATGCCCACAAACACCCATTGGCAACGCTCCCATCACTCT... | pathogenic | 56,174 |
Gene mutation in SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) at chromosome 2, position 216450873—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | CTGTCTCAAAAAAAAAAAAGAAAAAAGTAACAAATTACTTGGTATTTTGGTGTTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGT... | CTGTCTCAAAAAAAAAAAAGAAAAAAGTAACAAATTACTTGGTATTTTGGTGTTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGT... | pathogenic | 56,177 |
Is the genetic change at chromosome 2, position 216450914, within gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | GTATTTTGGTGTTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGG... | GTATTTTGGTGTTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGG... | pathogenic | 56,179 |
A mutation at chromosome position 216450925 on chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCAT... | TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCAT... | pathogenic | 56,181 |
Benign or pathogenic: chromosome 2, position 216451065, gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Schimke_immuno-osseous_dysplasia'] | CATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTC... | CATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTC... | pathogenic | 56,188 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 218344961, gene PNKD. What disease(s) is it linked to if pathogenic? | benign | GAGCTATGATTGTGCCACTGCACTGCAGCCTGGGCAACAATGAGACTCTGTCTCAAAAATAAAAAAGACTTCTGCCAGCTGCGGGACAGAATGGGAGAATGTCTGTAGCTGAGTAAAGCCCTGCAGGGAATTAGTTTCCCCTGGGTGGAGACTGGTTCTCTGATACAGTGACTGGCAGGACTAGGTTATGAAAAGTTAAGAACAGCTAGGTGAGTGGGTGGGTGAGGATCACAAGTCCCAGGCTGCATGAAATCCCAAAGGGCAGCCTAGGCGAAGAAGTGTTCCGTGGGAAAGAGCAGCCCTGCGTCTACCAAGCCTGG... | GAGCTATGATTGTGCCACTGCACTGCAGCCTGGGCAACAATGAGACTCTGTCTCAAAAATAAAAAAGACTTCTGCCAGCTGCGGGACAGAATGGGAGAATGTCTGTAGCTGAGTAAAGCCCTGCAGGGAATTAGTTTCCCCTGGGTGGAGACTGGTTCTCTGATACAGTGACTGGCAGGACTAGGTTATGAAAAGTTAAGAACAGCTAGGTGAGTGGGTGGGTGAGGATCACAAGTCCCAGGCTGCATGAAATCCCAAAGGGCAGCCTAGGCGAAGAAGTGTTCCGTGGGAAAGAGCAGCCCTGCGTCTACCAAGCCTGG... | benign | 56,298 |
Considering the genetic mutation at chromosome 2, position 218643360, impacting ZNF142 (zinc finger protein 142): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_disorder_with_impaired_speech_and_hyperkinetic_movements'] | TCTCGGCTCACTGCAAGTTCTGCCTCCCAGGTTCACGCCATTCACCTGCCTCAGCCTCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTCAATTTTTTTTTTTAAATGGAGTCTTGCTCTGTCACTCAGGCTGGGGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCAAATTCC... | TCTCGGCTCACTGCAAGTTCTGCCTCCCAGGTTCACGCCATTCACCTGCCTCAGCCTCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTCAATTTTTTTTTTTAAATGGAGTCTTGCTCTGTCACTCAGGCTGGGGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCAAATTCC... | pathogenic | 56,325 |
Variant on chromosome 2, at position 218661253, affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | ACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGG... | ACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGG... | pathogenic | 56,353 |
Gene mutation in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) at chromosome 2, position 218661266—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Pili_torti-deafness_syndrome'] | GGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTT... | GGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTT... | pathogenic | 56,356 |
The genetic variant at chromosome 2, position 218661456, affecting gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | CGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGG... | CGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGG... | pathogenic | 56,366 |
Does the variant impacting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on chromosome 2, position 218661482, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | GCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGC... | GCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGC... | pathogenic | 56,368 |
Does the variant impacting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on chromosome 2, position 218661500, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRACILE_syndrome', 'Inborn_genetic_diseases'] | CCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCC... | CCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCC... | pathogenic | 56,369 |
Chromosome 2, position 218661554, gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGT... | CTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGT... | benign | 56,375 |
Does the variant on chromosome 2 at location 218661743 affecting gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAA... | GTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAA... | benign | 56,376 |
Regarding the variant at chromosome 2 and position 218661747, affecting gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAAC... | AGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAAC... | benign | 56,377 |
Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) variant at chromosome position 218661904 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1'] | GAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTAC... | GAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTAC... | pathogenic | 56,391 |
Does the variant impacting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on chromosome 2, position 218662236, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRACILE_syndrome', 'Inborn_genetic_diseases', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | TTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTT... | TTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTT... | pathogenic | 56,397 |
Benign or pathogenic: chromosome 2, position 218662560, gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) variant? Disease(s) if pathogenic? | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | ATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCAC... | ATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCAC... | pathogenic | 56,401 |
A mutation at chromosome position 218662570 on chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases'] | TAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGG... | TAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGG... | pathogenic | 56,402 |
Chromosome 2, position 218662607, gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['GRACILE_syndrome', 'Pili_torti-deafness_syndrome'] | AGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGG... | AGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGG... | pathogenic | 56,405 |
Assess the variant on chromosome 2, position 218662939, impacting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | AATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTC... | AATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTC... | pathogenic | 56,412 |
Mutation found at chromosome 2 position 218662980, gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | CCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGT... | CCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGT... | pathogenic | 56,413 |
Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) variant at chromosome position 218662998 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRACILE_syndrome', 'Mitochondrial_complex_III_deficiency_nuclear_type_1', 'Pili_torti-deafness_syndrome'] | ACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAG... | ACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAG... | pathogenic | 56,416 |
Gene mutation in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) at chromosome 2, position 218781824—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GAAGATAAAGCCTTCTGCTTTTTGATCATTTGAATGGCTTATGTTTTGGCCCTGTTAGGGCCTCATACAATGGCTTAGCAATTCTGCAAAATCCTGCTATACCCAGGAAAGTTCTTAGGTTTTTTTTTTGTTGTTGTTGTTGTTTATAGAGGTTTTACTTCTAAGTAAACTTTTGTTTGATGGACAAGGTCCAGTTTCCTGAGTTTAGAATATACTACAGGTATTTCACTTTTGGTAGAGAAATTTGGGCTTGGATGGAGAGAACTGATTTTTTTTAAGGAAGTTTAGGACTTGAATGGCATTTTTATTTGAGTCTTCTT... | GAAGATAAAGCCTTCTGCTTTTTGATCATTTGAATGGCTTATGTTTTGGCCCTGTTAGGGCCTCATACAATGGCTTAGCAATTCTGCAAAATCCTGCTATACCCAGGAAAGTTCTTAGGTTTTTTTTTTGTTGTTGTTGTTGTTTATAGAGGTTTTACTTCTAAGTAAACTTTTGTTTGATGGACAAGGTCCAGTTTCCTGAGTTTAGAATATACTACAGGTATTTCACTTTTGGTAGAGAAATTTGGGCTTGGATGGAGAGAACTGATTTTTTTTAAGGAAGTTTAGGACTTGAATGGCATTTTTATTTGAGTCTTCTT... | benign | 56,474 |
Clinical classification of chromosome 2, position 218782184, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cholestanol_storage_disease'] | TGTGGCTCTCCTTTTTAGCTCTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTA... | TGTGGCTCTCCTTTTTAGCTCTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTA... | pathogenic | 56,475 |
Located at chromosome 2 position 218782186, the variant affecting gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cholestanol_storage_disease'] | TGGCTCTCCTTTTTAGCTCTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGA... | TGGCTCTCCTTTTTAGCTCTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGA... | pathogenic | 56,476 |
Is chromosome 2, position 218782204, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cholestanol_storage_disease'] | CTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATAT... | CTGGCTTTCTTAACTTTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATAT... | pathogenic | 56,478 |
For chromosome 2, position 218782219, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cholestanol_storage_disease'] | TTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATATATATATAATTTTTTT... | TTTGTGTCAAGGCATTTTTGAACAAGCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATATATATATAATTTTTTT... | pathogenic | 56,483 |
Variant at chromosome position 218782244, chromosome 2, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cholestanol_storage_disease'] | GCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATATATATATAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGT... | GCAAGGGCTATCCCTAAAGTCATGAGGCAGTATTGTCCTGGTGTACCATTGGGTAATAGTAGTTTCAGGATTAGTCTACTTGAAAGGAAATAAGTTCTGAGAGTCGAAGTGCAAAGGAATACAAAAGAAAGCATTCTTATGATCTAACACTGTGAACTAATTGGTGTTTTCTGGTATTTGGTTAAGTATAGTATAAGGATTTGGCACTATAGGATGTAAGAGAATTATGACCTCGTTAATGGCTCCTAAGTCTTGAACTAGATCATATATATATATATATATATATAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGT... | pathogenic | 56,484 |
Variant in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), located at chromosome 2 position 218809621: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cholestanol_storage_disease'] | TCTGACCCCCTCCGCTGCTCCCCTGACCCTCCCATAGTAATCACTTTATATTTATTTATTTAGAGACAGAGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTG... | TCTGACCCCCTCCGCTGCTCCCCTGACCCTCCCATAGTAATCACTTTATATTTATTTATTTAGAGACAGAGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTG... | pathogenic | 56,504 |
Is the genetic change at chromosome 2, position 218809688, within gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cholestanol_storage_disease'] | AGAGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTAT... | AGAGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTAT... | pathogenic | 56,508 |
The chromosome 2, position 218809715 genetic variant in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cholestanol_storage_disease'] | AGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTC... | AGTGCAGTGGGTACAGTCATGGCTCAATGCAGCTTTGACTTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTC... | pathogenic | 56,513 |
Mutation at chromosome 2, position 218812299, within CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['CYP27A1-related_disorder', 'Cholestanol_storage_disease'] | CCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTC... | CCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTC... | pathogenic | 56,531 |
The genetic variant at chromosome 2, position 218812321, affecting gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cholestanol_storage_disease'] | CATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATAT... | CATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATAT... | pathogenic | 56,532 |
Determine if the mutation at chromosome 2, position 218812356 in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cholestanol_storage_disease'] | TTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCC... | TTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCC... | pathogenic | 56,534 |
Considering the variant on chromosome 2, location 218812568, involving gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['CYP27A1-related_disorder', 'Cholestanol_storage_disease'] | GACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAA... | GACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAA... | pathogenic | 56,540 |
The mutation in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) at chromosome 2, position 218812656—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cholestanol_storage_disease'] | TTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATC... | TTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATC... | pathogenic | 56,549 |
Variant in CYP27A1 (cytochrome P450 family 27 subfamily A member 1), chromosome 2, position 218812723—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CYP27A1-related_disorder', 'Cholestanol_storage_disease'] | CCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATA... | CCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATA... | pathogenic | 56,552 |
Does the genetic variant at chromosome 2, position 218813021, impacting gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CYP27A1-related_disorder', 'Cardiovascular_phenotype', 'Cholestanol_storage_disease'] | CCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTC... | CCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTC... | pathogenic | 56,567 |
Variant in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), located at chromosome 2 position 218813083: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CYP27A1-related_disorder', 'Cholestanol_storage_disease'] | CAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTT... | CAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTT... | pathogenic | 56,570 |
Is the genetic change at chromosome 2, position 218813095, within gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cholestanol_storage_disease'] | AGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCA... | AGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCA... | pathogenic | 56,572 |
Classify the chromosome 2 variant at position 218814064 affecting gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cholestanol_storage_disease'] | CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGAC... | CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGAC... | pathogenic | 56,578 |
Variant chromosome 2, position 218814125, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cholestanol_storage_disease'] | GTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAA... | GTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAA... | pathogenic | 56,586 |
Is the genetic mutation found on chromosome 2 at position 218814171, within the gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cholestanol_storage_disease'] | TCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGG... | TCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGG... | pathogenic | 56,589 |
Considering the variant on chromosome 2, location 218814180, involving gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cholestanol_storage_disease'] | AGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAG... | AGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAG... | pathogenic | 56,590 |
Chromosome 2, position 218814385, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cholestanol_storage_disease'] | CGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACT... | CGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACT... | pathogenic | 56,599 |
Gene mutation in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) at chromosome 2, position 218814432—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cholestanol_storage_disease'] | GGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCT... | GGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCT... | pathogenic | 56,602 |
The chromosome 2, position 218814650 genetic variant in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cholestanol_storage_disease'] | ATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCAC... | ATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCAC... | pathogenic | 56,611 |
Chromosome 2, position 218814747, gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cholestanol_storage_disease'] | TGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTC... | TGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTC... | pathogenic | 56,623 |
The chromosome 2, position 218890298 genetic variant in gene WNT10A (Wnt family member 10A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Odonto-onycho-dermal_dysplasia', 'SchC6pf-Schulz-Passarge_syndrome', 'Tooth_agenesis,_selective,_4'] | TCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGC... | TCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGC... | pathogenic | 56,654 |
Variant in gene WNT10A (Wnt family member 10A), located at chromosome 2 position 218892948: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Odonto-onycho-dermal_dysplasia', 'Tooth_agenesis,_selective,_4'] | CCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGC... | CCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGC... | pathogenic | 56,663 |
Mutation at chromosome 2, position 218892961, within WNT10A (Wnt family member 10A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Odonto-onycho-dermal_dysplasia', 'Tooth_agenesis,_selective,_4'] | ATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGA... | ATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGA... | pathogenic | 56,664 |
Clinically, how would you classify the variant at chromosome 2, position 218893004, gene WNT10A (Wnt family member 10A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Odonto-onycho-dermal_dysplasia', 'Tooth_agenesis,_selective,_4'] | ATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGAT... | ATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGAT... | pathogenic | 56,666 |
Is the variant located on chromosome 2 at position 219158351, gene NHEJ1 (non-homologous end joining factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cernunnos-XLF_deficiency', 'Severe_combined_immunodeficiency_disease'] | AGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAA... | AGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAA... | pathogenic | 56,741 |
Variant in DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2), chromosome 2, position 219284609—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCGCGTCATGATGATTTGCCTGTACTGAAAGAGCCATCTGTCCTCCATCCCTCTTCCCCCTCCTTCCTTCCTTTATTCTTTATTGTGGACAGAATTAACCAGTGAGTGTTTTCGAATTCAACATTAAAAAGGAATTTATAAATAAGCCCAACTAAAAAGCGGAAAAGAAAAACCCTACCCAGTTGCTTAGTGGTTTATACTTCCAGACTTGGGCTCACACACTTTTGAGGGGAAATGTCATTACCAGATGACTGCTAATCTGTTTACTTGTTGCAGATGACCTGGGCCCCTTCTCAGAGCTTCAGAACCGGGGTTCCCGA... | TCGCGTCATGATGATTTGCCTGTACTGAAAGAGCCATCTGTCCTCCATCCCTCTTCCCCCTCCTTCCTTCCTTTATTCTTTATTGTGGACAGAATTAACCAGTGAGTGTTTTCGAATTCAACATTAAAAAGGAATTTATAAATAAGCCCAACTAAAAAGCGGAAAAGAAAAACCCTACCCAGTTGCTTAGTGGTTTATACTTCCAGACTTGGGCTCACACACTTTTGAGGGGAAATGTCATTACCAGATGACTGCTAATCTGTTTACTTGTTGCAGATGACCTGGGCCCCTTCTCAGAGCTTCAGAACCGGGGTTCCCGA... | benign | 56,821 |
Is chromosome 2, position 219418432, gene DES variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGGGAGGAGGCACAGCATGTCATCAAAATAAGGAAATTGCAAAAGAAAGCTTGCAGGCTACTTTGAATGACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTT... | GGGGAGGAGGCACAGCATGTCATCAAAATAAGGAAATTGCAAAAGAAAGCTTGCAGGCTACTTTGAATGACAATGAGAAAGACGGTGCTGCCTGAGTGTGTTAAGGATCCACATGGTCTCCAAAATCCTCCAGGAGCATACAGTCTAGTCTGGGAGATGAGACACAAAAATAACCAGAACACAACAGCTTGCACTGACTCGAGGGCTGGATAAGAATATCTGGAACTCCCCCATCTATTTCAGAAGCTTGTCTCTTGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTT... | benign | 56,839 |
Classify the chromosome 2 variant at position 219418687 affecting gene DES (desmin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['DES-related_disorder', 'Desmin-related_myofibrillar_myopathy', 'Dilated_cardiomyopathy_1I', 'Neurogenic_scapuloperoneal_syndrome,_Kaeser_type'] | TGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGG... | TGGATGAAAATTAGACACTTAATGGGAAAGGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGG... | pathogenic | 56,860 |
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