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 |
|---|---|---|---|---|---|
The chromosome 9, position 137233380 genetic variant in gene SLC34A3 (solute carrier family 34 member 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | CCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGT... | CCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGT... | pathogenic | 156,411 |
Does the variant on chromosome 9 at location 137234189 affecting gene SLC34A3 (solute carrier family 34 member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | ACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAA... | ACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAA... | pathogenic | 156,426 |
Mutation found at chromosome 9 position 137234226, gene SLC34A3 (solute carrier family 34 member 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | CGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGG... | CGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGG... | pathogenic | 156,429 |
Classify the chromosome 9 variant at position 137234641 affecting gene SLC34A3 (solute carrier family 34 member 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease', 'SLC34A3-related_disorder'] | GGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCA... | GGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCA... | pathogenic | 156,444 |
Clinically, how would you classify the variant at chromosome 9, position 137234642, gene SLC34A3 (solute carrier family 34 member 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | GCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCAT... | GCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCAT... | pathogenic | 156,445 |
The mutation in gene SLC34A3 (solute carrier family 34 member 3) at chromosome 9, position 137234699—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease', 'SLC34A3-related_disorder'] | CTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTG... | CTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTG... | pathogenic | 156,446 |
Assess the variant on chromosome 9, position 137236117, impacting SLC34A3 (solute carrier family 34 member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | CCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGG... | CCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGG... | pathogenic | 156,455 |
Variant in SLC34A3 (solute carrier family 34 member 3), chromosome 9, position 137236173—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease', 'SLC34A3-related_disorder'] | GGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGC... | GGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGC... | pathogenic | 156,458 |
Variant in gene NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor), located at chromosome 9 position 137452600: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGATCTCCCCCACCACACGCCTCTTCCCCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATTTCCCCCACCACACGCCTCTTCCCCTTGATCTTCCCCCGCCTCTTCCTCTTGATCTCCCCCCCTCGCCTCTTCCTCTTAATTCCCCCCAATGCCTCTTCCCCTTGATCTCCCCCACCACACGCTCTTCTCCTTGATCTCCCCCCAATGCCTCTTCCCCTTGACCTGCCCGCCACGCCTCTTCCTTTTGATCTCCCC... | TGATCTCCCCCACCACACGCCTCTTCCCCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATTTCCCCCACCACACGCCTCTTCCCCTTGATCTTCCCCCGCCTCTTCCTCTTGATCTCCCCCCCTCGCCTCTTCCTCTTAATTCCCCCCAATGCCTCTTCCCCTTGATCTCCCCCACCACACGCTCTTCTCCTTGATCTCCCCCCAATGCCTCTTCCCCTTGACCTGCCCGCCACGCCTCTTCCTTTTGATCTCCCC... | benign | 156,489 |
Does the variant on chromosome 9 at location 137619046 affecting gene EHMT1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Kleefstra_syndrome_1'] | GAAAAATGGAGTGAAAAAGCTGCCTGCAGCTGCTTCCCACACCTTCACTTAGGGTGGATGTTTGCTTGGTGAAGGATTTTTCTTCACATTCTAACTCCCTTTATTCAGTCAACAATTTTTTTGTTGTTGTTGTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCATTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAGCACCACTCCCGGCTATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT... | GAAAAATGGAGTGAAAAAGCTGCCTGCAGCTGCTTCCCACACCTTCACTTAGGGTGGATGTTTGCTTGGTGAAGGATTTTTCTTCACATTCTAACTCCCTTTATTCAGTCAACAATTTTTTTGTTGTTGTTGTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCATTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAGCACCACTCCCGGCTATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT... | pathogenic | 156,511 |
Regarding the variant found on chromosome 9 at position 137710979 in gene EHMT1 (euchromatic histone lysine methyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kleefstra_syndrome_1'] | CCTGCCCCCTTCCTCTGATGTGGAACGCTGGAGAGCTGTGCTCACAGGCCATCATCTCACTGCCTCATCCAGGGCACTCTCAGGCGAGCCCCCCAAGTGCCTGCTGGTCAAGAGTTCAGTTGCTGGAGTACACTTCGGTGTCCTGACCTGGTCGATGCAAAGGGGCTGACACCACCGCTTGGGCACCGTCTGTGCAAATATCAGCACAGTGAAAAAGGCAATTGAGGTCCTAGTATTACCATGAAAATAGTTTTGACCTCCTGGACTCCTGGAAGGATTGCAGGGACCCCGGAGAGCTCCTGTTGGGGGGTAGGTGTGAA... | CCTGCCCCCTTCCTCTGATGTGGAACGCTGGAGAGCTGTGCTCACAGGCCATCATCTCACTGCCTCATCCAGGGCACTCTCAGGCGAGCCCCCCAAGTGCCTGCTGGTCAAGAGTTCAGTTGCTGGAGTACACTTCGGTGTCCTGACCTGGTCGATGCAAAGGGGCTGACACCACCGCTTGGGCACCGTCTGTGCAAATATCAGCACAGTGAAAAAGGCAATTGAGGTCCTAGTATTACCATGAAAATAGTTTTGACCTCCTGGACTCCTGGAAGGATTGCAGGGACCCCGGAGAGCTCCTGTTGGGGGGTAGGTGTGAA... | pathogenic | 156,519 |
Chromosome 9, position 137728456, gene EHMT1 (euchromatic histone lysine methyltransferase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Kleefstra_syndrome_1'] | AGTGTCCCCGAGGCTCATCCACGCTGCAGCGCGGGCCCCAGCTTCGCTGCTTCTCAGGCTGAGTCACACGTCACTGCGTTTTGCACACGACACTTTGCTGATCCGTTCGCCCGACAGCCGACCCTCGGGTGGCTTCCCCCTTTTGGCTGCTGTGGTTGATGCTGCTATCAACGTGGGTGTACAAGCATCTCTTCAAGACCCTGCTTTCAGTGCTGCTGGGGCACGTGCCCAGCAGTGGAACTGCTGGATCACATGGTAGTTCCACACTTAGCTTTTTGAGTTTTCCACAGCGGATGCACCGTTTCACTTCCTACCAGCAG... | AGTGTCCCCGAGGCTCATCCACGCTGCAGCGCGGGCCCCAGCTTCGCTGCTTCTCAGGCTGAGTCACACGTCACTGCGTTTTGCACACGACACTTTGCTGATCCGTTCGCCCGACAGCCGACCCTCGGGTGGCTTCCCCCTTTTGGCTGCTGTGGTTGATGCTGCTATCAACGTGGGTGTACAAGCATCTCTTCAAGACCCTGCTTTCAGTGCTGCTGGGGCACGTGCCCAGCAGTGGAACTGCTGGATCACATGGTAGTTCCACACTTAGCTTTTTGAGTTTTCCACAGCGGATGCACCGTTTCACTTCCTACCAGCAG... | pathogenic | 156,586 |
The mutation in gene EHMT1 (euchromatic histone lysine methyltransferase 1) at chromosome 9, position 137743352—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCAGGGTTATCTCCTTTGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCAC... | GCAGGGTTATCTCCTTTGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCAC... | benign | 156,592 |
Considering the variant on chromosome 9, location 137743352, involving gene EHMT1 (euchromatic histone lysine methyltransferase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCAGGGTTATCTCCTTTGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCAC... | GCAGGGTTATCTCCTTTGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCAC... | benign | 156,593 |
A genetic alteration at chromosome 9, position 137743368, in gene EHMT1 (euchromatic histone lysine methyltransferase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Kleefstra_syndrome_1', 'likely other unspecified diseases'] | TGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCACCCTTGGGTATATGCAG... | TGTCCTCACTCAGCCATTCATTACAGGAGTCAGCAAACTGTTTCCAGGGGACAGGTAGCAAACTGTTTCCAGGGGACAGGTAGCAAACGTCAGCGCCTTTGTGGGCCACACTGTTCCTGTCCCAGCTGGTCATGCTGTTGTCACATTGAAGCAGATGCAGACAGTATGTAGACAGTGGGCATGGGTGTGCACCAATAAAGCTTTATTTATAAACAGGTGCCATGTCCGATTTATGATATTAATAACCATGGGTTACTGAGATGAAATGAGGAAAAGAATCTAGTGAGAAAGTACATGTAGTCACCCTTGGGTATATGCAG... | pathogenic | 156,595 |
Does the variant impacting EHMT1 (euchromatic histone lysine methyltransferase 1) on chromosome 9, position 137743969, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Kleefstra_syndrome', 'Kleefstra_syndrome_1'] | ACAAAATATCTATTCAAAATATCAAGATGATTATGATAGTGAGTTTAGGATTCCCAGGGCTACCAAGGGATTTCTGTTGCTTGAGCACAGCCATGCTGGCCTGTCAGCCTGTTATAGTGTGGACAGACAGAGCCAAGTGTCTGCATGTTGGCTGTGTGCTCCGAGCCTGACCCCCATGAACATACTGCAGACGCCTGGTGTGATCGTTTCCCAGCGTCCGTGGTCCCAGGCACCTCCTTACTCCAGAGCGGATTGCCCAGGCCCCGCGGCGTCTGTGGGTGGTGCTGTCAAAGGACCTACCCGCTTTGGATGGTTCTCAC... | ACAAAATATCTATTCAAAATATCAAGATGATTATGATAGTGAGTTTAGGATTCCCAGGGCTACCAAGGGATTTCTGTTGCTTGAGCACAGCCATGCTGGCCTGTCAGCCTGTTATAGTGTGGACAGACAGAGCCAAGTGTCTGCATGTTGGCTGTGTGCTCCGAGCCTGACCCCCATGAACATACTGCAGACGCCTGGTGTGATCGTTTCCCAGCGTCCGTGGTCCCAGGCACCTCCTTACTCCAGAGCGGATTGCCCAGGCCCCGCGGCGTCTGTGGGTGGTGCTGTCAAAGGACCTACCCGCTTTGGATGGTTCTCAC... | pathogenic | 156,603 |
A genetic variant on chromosome 9, position 137743978, affects the gene EHMT1 (euchromatic histone lysine methyltransferase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Kleefstra_syndrome_1'] | CTATTCAAAATATCAAGATGATTATGATAGTGAGTTTAGGATTCCCAGGGCTACCAAGGGATTTCTGTTGCTTGAGCACAGCCATGCTGGCCTGTCAGCCTGTTATAGTGTGGACAGACAGAGCCAAGTGTCTGCATGTTGGCTGTGTGCTCCGAGCCTGACCCCCATGAACATACTGCAGACGCCTGGTGTGATCGTTTCCCAGCGTCCGTGGTCCCAGGCACCTCCTTACTCCAGAGCGGATTGCCCAGGCCCCGCGGCGTCTGTGGGTGGTGCTGTCAAAGGACCTACCCGCTTTGGATGGTTCTCACTCGTTCACG... | CTATTCAAAATATCAAGATGATTATGATAGTGAGTTTAGGATTCCCAGGGCTACCAAGGGATTTCTGTTGCTTGAGCACAGCCATGCTGGCCTGTCAGCCTGTTATAGTGTGGACAGACAGAGCCAAGTGTCTGCATGTTGGCTGTGTGCTCCGAGCCTGACCCCCATGAACATACTGCAGACGCCTGGTGTGATCGTTTCCCAGCGTCCGTGGTCCCAGGCACCTCCTTACTCCAGAGCGGATTGCCCAGGCCCCGCGGCGTCTGTGGGTGGTGCTGTCAAAGGACCTACCCGCTTTGGATGGTTCTCACTCGTTCACG... | pathogenic | 156,606 |
Located at chromosome 9 position 137811607, the variant affecting gene EHMT1 (euchromatic histone lysine methyltransferase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Kleefstra_syndrome_1'] | ATGGCATCTGGGAAGATCGCTGACCATTCCCGAGGGGAAGGAGGCTGCAGCCGGCGCTCCCAGACACCAGCAGAGCAGAACACACTTCAGGAACGTGAAACGCTCACGTGCTTTTAATCCAGCAATCCTGCCTCTGAGGATGCATCCTTGAGAAATAATGTAGAAAATGAAAAGCACTAAAATATTTGCTGGCATTGTATTCCAGAAATATACCAACAGACATAAACCAAGTGTTCAGTAAAGGAAAGGTCCGGAAGCTGAGTGACTGTGGGGGAAGGGTCCGGAGGCGGTTCCGATGCCGCCCTGTGTGGACCGTCGGT... | ATGGCATCTGGGAAGATCGCTGACCATTCCCGAGGGGAAGGAGGCTGCAGCCGGCGCTCCCAGACACCAGCAGAGCAGAACACACTTCAGGAACGTGAAACGCTCACGTGCTTTTAATCCAGCAATCCTGCCTCTGAGGATGCATCCTTGAGAAATAATGTAGAAAATGAAAAGCACTAAAATATTTGCTGGCATTGTATTCCAGAAATATACCAACAGACATAAACCAAGTGTTCAGTAAAGGAAAGGTCCGGAAGCTGAGTGACTGTGGGGGAAGGGTCCGGAGGCGGTTCCGATGCCGCCCTGTGTGGACCGTCGGT... | pathogenic | 156,715 |
Is the variant located on chromosome 9 at position 137813007, gene EHMT1 (euchromatic histone lysine methyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Kleefstra_syndrome_1'] | CCAAAATGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAAAATTTTAATTTAATCAAATTTGCACGTCCTTTTTTCAAATCTTTCAAAAGCATTATCCTATCCTATGACTATACCCCTGCTTGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTT... | CCAAAATGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAAAATTTTAATTTAATCAAATTTGCACGTCCTTTTTTCAAATCTTTCAAAAGCATTATCCTATCCTATGACTATACCCCTGCTTGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTT... | pathogenic | 156,721 |
Does the genetic variant at chromosome 9, position 137813131, impacting gene EHMT1 (euchromatic histone lysine methyltransferase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Kleefstra_syndrome_1'] | CTTGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTTGAGATGGGCGCTAGGTTCCCATCCGGTGACCTGTGGCACCCTTTCCACCTGGCCCTGCTGCGGACGGCCACGCATGCTCCAGAGCCTCTCCCCGGGCACATGGGCTGCAGCTGCTGTGGCCCAG... | CTTGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTTGAGATGGGCGCTAGGTTCCCATCCGGTGACCTGTGGCACCCTTTCCACCTGGCCCTGCTGCGGACGGCCACGCATGCTCCAGAGCCTCTCCCCGGGCACATGGGCTGCAGCTGCTGTGGCCCAG... | pathogenic | 156,729 |
Evaluate the clinical significance of the mutation at chromosome 9, position 137813133 in gene EHMT1 (euchromatic histone lysine methyltransferase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Kleefstra_syndrome_1'] | TGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTTGAGATGGGCGCTAGGTTCCCATCCGGTGACCTGTGGCACCCTTTCCACCTGGCCCTGCTGCGGACGGCCACGCATGCTCCAGAGCCTCTCCCCGGGCACATGGGCTGCAGCTGCTGTGGCCCAGCC... | TGGAAATGAATATAATTTTTAAAAATACATGAAAGAAAAGTGCCTCCAAGTGTTAATATGTTGAGTGTAGGTTGATATAATTCTGGATGACCTTTTCCCTATTTTTATTCTTTACTGTGATTATGCTACTTTTATAATTATGTTATTTTTACAATGAAACAAACAAAACATGAAACGAAGTGCCTTCCAGAGTTGAGATGGGCGCTAGGTTCCCATCCGGTGACCTGTGGCACCCTTTCCACCTGGCCCTGCTGCGGACGGCCACGCATGCTCCAGAGCCTCTCCCCGGGCACATGGGCTGCAGCTGCTGTGGCCCAGCC... | pathogenic | 156,730 |
Regarding the variant found on chromosome 9 at position 137813421 in gene EHMT1 (euchromatic histone lysine methyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kleefstra_syndrome_1'] | GGCACATGGGCTGCAGCTGCTGTGGCCCAGCCCCAGCACTGTGAGCCAGCAGGAAGCCTGCACTGAGCTCTGGCTTGTGTCTGTTCAGGAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGTGTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGCTGACCTGACCTGGGCGCCCAGAGAGACCGCTTGACAGTCTTG... | GGCACATGGGCTGCAGCTGCTGTGGCCCAGCCCCAGCACTGTGAGCCAGCAGGAAGCCTGCACTGAGCTCTGGCTTGTGTCTGTTCAGGAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGTGTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGCTGACCTGACCTGGGCGCCCAGAGAGACCGCTTGACAGTCTTG... | pathogenic | 156,745 |
Considering the genetic mutation at chromosome 9, position 137813471, impacting EHMT1 (euchromatic histone lysine methyltransferase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Kleefstra_syndrome_1'] | AGGAAGCCTGCACTGAGCTCTGGCTTGTGTCTGTTCAGGAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGTGTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGCTGACCTGACCTGGGCGCCCAGAGAGACCGCTTGACAGTCTTGTGTTCACACTTGGGGCGTGAGTGGACACAGGCCCTCTGTTCCTTCGTGTG... | AGGAAGCCTGCACTGAGCTCTGGCTTGTGTCTGTTCAGGAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGTGTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGCTGACCTGACCTGGGCGCCCAGAGAGACCGCTTGACAGTCTTGTGTTCACACTTGGGGCGTGAGTGGACACAGGCCCTCTGTTCCTTCGTGTG... | pathogenic | 156,750 |
Mutation at chromosome 9, position 137817423, within EHMT1 (euchromatic histone lysine methyltransferase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGA... | AATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGA... | benign | 156,776 |
Does the variant impacting EHMT1 (euchromatic histone lysine methyltransferase 1) on chromosome 9, position 137834335, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTTCCACGTGGCCTCTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTCCCACGTGGCCACTGCACTTTGCTCCCATCCTAGGATTGGCTGGTCTCCCTCAGGCCCCGCCTCCCACGCGGCCTCTGCACCTCGCTCCAGTCCTAGGATTGGCTGGGCTCCCTCCGCAGGCCCTCCCCCCACCCACCCATGTGGCCCCTGTGCCTTCTCTCCAGTCCTAGGATTGGCTGGGCTCTCTCCGCAGGCCCCG... | CTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTTCCACGTGGCCTCTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTCCCACGTGGCCACTGCACTTTGCTCCCATCCTAGGATTGGCTGGTCTCCCTCAGGCCCCGCCTCCCACGCGGCCTCTGCACCTCGCTCCAGTCCTAGGATTGGCTGGGCTCCCTCCGCAGGCCCTCCCCCCACCCACCCATGTGGCCCCTGTGCCTTCTCTCCAGTCCTAGGATTGGCTGGGCTCTCTCCGCAGGCCCCG... | benign | 156,789 |
A genetic variant at chromosome 9, position 137834389, affecting gene EHMT1 (euchromatic histone lysine methyltransferase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Kleefstra_syndrome_1'] | TCCACGTGGCCTCTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTCCCACGTGGCCACTGCACTTTGCTCCCATCCTAGGATTGGCTGGTCTCCCTCAGGCCCCGCCTCCCACGCGGCCTCTGCACCTCGCTCCAGTCCTAGGATTGGCTGGGCTCCCTCCGCAGGCCCTCCCCCCACCCACCCATGTGGCCCCTGTGCCTTCTCTCCAGTCCTAGGATTGGCTGGGCTCTCTCCGCAGGCCCCGCCTCCCACGTTGCCTATCTGCCTTACTCCAGCCGTCCTTCTCTGGACTGTTGTC... | TCCACGTGGCCTCTGCACCTCGCTCCCGTCCTAGAATTGGCTGGGCTCCCTCCACAGGCCCCGCCTCCCACGTGGCCACTGCACTTTGCTCCCATCCTAGGATTGGCTGGTCTCCCTCAGGCCCCGCCTCCCACGCGGCCTCTGCACCTCGCTCCAGTCCTAGGATTGGCTGGGCTCCCTCCGCAGGCCCTCCCCCCACCCACCCATGTGGCCCCTGTGCCTTCTCTCCAGTCCTAGGATTGGCTGGGCTCTCTCCGCAGGCCCCGCCTCCCACGTTGCCTATCTGCCTTACTCCAGCCGTCCTTCTCTGGACTGTTGTC... | pathogenic | 156,791 |
Chromosome 9, position 137834886, gene EHMT1 (euchromatic histone lysine methyltransferase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTGTGCGCCGTTGCTAGTTCCGGAATTGCATTCTGCACGAGGAGGGGTCGCCTATAGATTCTTAGTCCATCAGACCCCGAAGCAGAGGCCAAAGTCCACGCCAGGTGAGCCACTCTGAACTCTGTTTCTTTGGGGTAAACCAGGAGGCAGCTTCCCGCGCCTTTGGCTTTGGGGGCTGTGGCTGGTCCTGTCCTGCGGCCGTGCTCGCCTGGTTTACTGTCTTGTCACTGCCCGCGCCGTGAAGGTTGACGGAGAGCTGCTCTCGTCCACGCCTTTACCCGCTTGTTGGTTTGGGTTTTAACCTCTTGACCTCTGAGC... | GTGTGTGCGCCGTTGCTAGTTCCGGAATTGCATTCTGCACGAGGAGGGGTCGCCTATAGATTCTTAGTCCATCAGACCCCGAAGCAGAGGCCAAAGTCCACGCCAGGTGAGCCACTCTGAACTCTGTTTCTTTGGGGTAAACCAGGAGGCAGCTTCCCGCGCCTTTGGCTTTGGGGGCTGTGGCTGGTCCTGTCCTGCGGCCGTGCTCGCCTGGTTTACTGTCTTGTCACTGCCCGCGCCGTGAAGGTTGACGGAGAGCTGCTCTCGTCCACGCCTTTACCCGCTTGTTGGTTTGGGTTTTAACCTCTTGACCTCTGAGC... | benign | 156,801 |
Determine whether the variant at chromosome 9, position 138013249, in gene CACNA1B is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGGTGCCGGGGTTGCCTTGGAGCCCGGGGCCCTAGCTGTCCTGGGTGGGCTGCACTGGAGCGCTGGGGCCCCACTGTCTCTTTAAGTTCTGTCATGAAGGAAGATGCATGGAGGAAGCCATGTCCTTGGGGCCCTGTGTCCACATACATGTACCCTCATTGGTGGCCCCCCTTTTGTGTAACTGGCCTCATTTAGGAATTTCTTCTCTGAGGATCGGGGCCACTGGGGGCCTGTCTGTGTCTGGCTGTGGGCATTTTTCTGGGCTGACCAAGAGCCGCAAAGTTTATGACTCGACCATCCCCTTCCCTTATATTCCCAT... | TTGGTGCCGGGGTTGCCTTGGAGCCCGGGGCCCTAGCTGTCCTGGGTGGGCTGCACTGGAGCGCTGGGGCCCCACTGTCTCTTTAAGTTCTGTCATGAAGGAAGATGCATGGAGGAAGCCATGTCCTTGGGGCCCTGTGTCCACATACATGTACCCTCATTGGTGGCCCCCCTTTTGTGTAACTGGCCTCATTTAGGAATTTCTTCTCTGAGGATCGGGGCCACTGGGGGCCTGTCTGTGTCTGGCTGTGGGCATTTTTCTGGGCTGACCAAGAGCCGCAAAGTTTATGACTCGACCATCCCCTTCCCTTATATTCCCAT... | benign | 156,868 |
Is the chromosome 9, position 138023718 variant in CACNA1B (calcium voltage-gated channel subunit alpha1 B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCTGATCCTGACTCACTGTGGGACCCTGAGCAAGTAACATCCTCTCTCTAGGCTCAGTATCTTCATCTGTGAAATGGGGACAAGAGTAGCACCTGATTCTTGAGGTGGTTGTAAGGACTGGATGAAGTGGGCACTGCGCCCAGAGCACCACGTGGCAGTTGCAGGACACAGATGCCATGGCCCTCATTGTTGGTGTAGTCACTGCTGCCGCCAAGGCCATCCAGCAGCCTTGGAGGCTCCAGGGCGGGCCTCTGGCCTCAGATGAGGTTTCTCCCTGGCGATGGTGGGGCTTAGTTTTGGGATAATAAGACCTTATCCAA... | TCTGATCCTGACTCACTGTGGGACCCTGAGCAAGTAACATCCTCTCTCTAGGCTCAGTATCTTCATCTGTGAAATGGGGACAAGAGTAGCACCTGATTCTTGAGGTGGTTGTAAGGACTGGATGAAGTGGGCACTGCGCCCAGAGCACCACGTGGCAGTTGCAGGACACAGATGCCATGGCCCTCATTGTTGGTGTAGTCACTGCTGCCGCCAAGGCCATCCAGCAGCCTTGGAGGCTCCAGGGCGGGCCTCTGGCCTCAGATGAGGTTTCTCCCTGGCGATGGTGGGGCTTAGTTTTGGGATAATAAGACCTTATCCAA... | benign | 156,881 |
The chromosome 9, position 138023729 genetic variant in gene CACNA1B (calcium voltage-gated channel subunit alpha1 B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTCACTGTGGGACCCTGAGCAAGTAACATCCTCTCTCTAGGCTCAGTATCTTCATCTGTGAAATGGGGACAAGAGTAGCACCTGATTCTTGAGGTGGTTGTAAGGACTGGATGAAGTGGGCACTGCGCCCAGAGCACCACGTGGCAGTTGCAGGACACAGATGCCATGGCCCTCATTGTTGGTGTAGTCACTGCTGCCGCCAAGGCCATCCAGCAGCCTTGGAGGCTCCAGGGCGGGCCTCTGGCCTCAGATGAGGTTTCTCCCTGGCGATGGTGGGGCTTAGTTTTGGGATAATAAGACCTTATCCAAAGGTGGTCTTA... | CTCACTGTGGGACCCTGAGCAAGTAACATCCTCTCTCTAGGCTCAGTATCTTCATCTGTGAAATGGGGACAAGAGTAGCACCTGATTCTTGAGGTGGTTGTAAGGACTGGATGAAGTGGGCACTGCGCCCAGAGCACCACGTGGCAGTTGCAGGACACAGATGCCATGGCCCTCATTGTTGGTGTAGTCACTGCTGCCGCCAAGGCCATCCAGCAGCCTTGGAGGCTCCAGGGCGGGCCTCTGGCCTCAGATGAGGTTTCTCCCTGGCGATGGTGGGGCTTAGTTTTGGGATAATAAGACCTTATCCAAAGGTGGTCTTA... | benign | 156,883 |
The genetic variant at chromosome 9, position 138102897, affecting gene CACNA1B (calcium voltage-gated channel subunit alpha1 B): benign or pathogenic? Disease name(s) if pathogenic? | benign | GAGGGAGGGGCAGGGCAGTGTTCTGTGTGGAGCGGCTCCTGCACACATCGGGCTCCGGAAATTTCGCTGGGGTTGCCACACCTCCCGGGGAGCTCCAAGCCCCAGTACCCCGGCGAGGTGCCACCTGTCCAGTGCACCCCTCACCTCCGCCGCCACGCCTGCGCGAGGTCGGTCTTCCCATCACAGGCTGGGCGGGCGGGAGGGTCGGGCTCCATCCTGCCTTTGTTGCCATAACCTGTGACATTTCCTTTCCAGTTGCCGGATTCATTATAAGGATATGTACAGTTTGTTGCGTTGTATTGCGCCACCCGTTGGCTTAG... | GAGGGAGGGGCAGGGCAGTGTTCTGTGTGGAGCGGCTCCTGCACACATCGGGCTCCGGAAATTTCGCTGGGGTTGCCACACCTCCCGGGGAGCTCCAAGCCCCAGTACCCCGGCGAGGTGCCACCTGTCCAGTGCACCCCTCACCTCCGCCGCCACGCCTGCGCGAGGTCGGTCTTCCCATCACAGGCTGGGCGGGCGGGAGGGTCGGGCTCCATCCTGCCTTTGTTGCCATAACCTGTGACATTTCCTTTCCAGTTGCCGGATTCATTATAAGGATATGTACAGTTTGTTGCGTTGTATTGCGCCACCCGTTGGCTTAG... | benign | 156,932 |
Variant in CACNA1B (calcium voltage-gated channel subunit alpha1 B), chromosome 9, position 138115601—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neurodevelopmental_disorder_with_seizures_and_nonepileptic_hyperkinetic_movements'] | CGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGTGCCGGGAGGTG... | CGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGTGCCGGGAGGTG... | pathogenic | 156,944 |
A mutation at chromosome position 239539 on chromosome 10 in gene ZMYND11 (zinc finger MYND-type containing 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATAAAAAGGTAGAAAATATTTTGAGCTTTAGGAATTGATGTCTTACCTGCCTTCCTTTAACCACATTTAAATTGATGTACTAACACCCTCTTAGGCTATAGATCTTAATAAAAAGGGGAAGGACAATAAACACCCGATGTACAGGAGGCTGGTGCACTCAGCTGTGGACGTTCCCACCATTCAAGAGGTAAAGTCGGTTTCTTTTATTTCCACTTCAAGTACATTTTCTTAACTAACAAGTTAAAGAATAATGTAGCAGTTAAGCAGATTTTGGTTGCTCTTCTTTCCTTGAAAGTGTACTTTTTTCCACTTCCTAAAAC... | ATAAAAAGGTAGAAAATATTTTGAGCTTTAGGAATTGATGTCTTACCTGCCTTCCTTTAACCACATTTAAATTGATGTACTAACACCCTCTTAGGCTATAGATCTTAATAAAAAGGGGAAGGACAATAAACACCCGATGTACAGGAGGCTGGTGCACTCAGCTGTGGACGTTCCCACCATTCAAGAGGTAAAGTCGGTTTCTTTTATTTCCACTTCAAGTACATTTTCTTAACTAACAAGTTAAAGAATAATGTAGCAGTTAAGCAGATTTTGGTTGCTCTTCTTTCCTTGAAAGTGTACTTTTTTCCACTTCCTAAAAC... | benign | 156,992 |
Chromosome 10, position 239539, gene ZMYND11 (zinc finger MYND-type containing 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATAAAAAGGTAGAAAATATTTTGAGCTTTAGGAATTGATGTCTTACCTGCCTTCCTTTAACCACATTTAAATTGATGTACTAACACCCTCTTAGGCTATAGATCTTAATAAAAAGGGGAAGGACAATAAACACCCGATGTACAGGAGGCTGGTGCACTCAGCTGTGGACGTTCCCACCATTCAAGAGGTAAAGTCGGTTTCTTTTATTTCCACTTCAAGTACATTTTCTTAACTAACAAGTTAAAGAATAATGTAGCAGTTAAGCAGATTTTGGTTGCTCTTCTTTCCTTGAAAGTGTACTTTTTTCCACTTCCTAAAAC... | ATAAAAAGGTAGAAAATATTTTGAGCTTTAGGAATTGATGTCTTACCTGCCTTCCTTTAACCACATTTAAATTGATGTACTAACACCCTCTTAGGCTATAGATCTTAATAAAAAGGGGAAGGACAATAAACACCCGATGTACAGGAGGCTGGTGCACTCAGCTGTGGACGTTCCCACCATTCAAGAGGTAAAGTCGGTTTCTTTTATTTCCACTTCAAGTACATTTTCTTAACTAACAAGTTAAAGAATAATGTAGCAGTTAAGCAGATTTTGGTTGCTCTTCTTTCCTTGAAAGTGTACTTTTTTCCACTTCCTAAAAC... | benign | 156,993 |
Clinically, how would you classify the variant at chromosome 10, position 240055, gene ZMYND11 (zinc finger MYND-type containing 11): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases'] | CAGGTTTAGCAGTGGTACCTGAGAGTTCCTCTCAGAAAAAAAAGTAAAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCA... | CAGGTTTAGCAGTGGTACCTGAGAGTTCCTCTCAGAAAAAAAAGTAAAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCA... | pathogenic | 156,994 |
Assess the variant on chromosome 10, position 240093, impacting ZMYND11 (zinc finger MYND-type containing 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_30'] | AAAAAGTAAAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCACAGGAATAATTTTAAATCATCTTACAAGTTTCTTTTCT... | AAAAAGTAAAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCACAGGAATAATTTTAAATCATCTTACAAGTTTCTTTTCT... | pathogenic | 156,995 |
Mutation found at chromosome 10 position 240101, gene ZMYND11 (zinc finger MYND-type containing 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_30'] | AAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCACAGGAATAATTTTAAATCATCTTACAAGTTTCTTTTCTTTTTTTTT... | AAGCATAGAACTGATCTGCCGTCTTGGGAAACAATAAAATGAACAAAAAAAATTATGATTAGAAAAGTTAATTATTCTTAAAGGTCTTAATTTTACCAACTATAGCTGAGGATTGTTAGTTTGTTCACGTCCAGTAACAAATTGCAACAACATCCAGTAGAACACGTAGACATATTTGCAGTCAGGGTTACTGAATTACTGATTTTGCACCTCATGTGTCATGTTGGAAATTTAAAATCTTAACGCTTGGTCATTATAGCCTATAGGGAGACCACAGGAATAATTTTAAATCATCTTACAAGTTTCTTTTCTTTTTTTTT... | pathogenic | 156,996 |
Variant at chromosome position 242097, chromosome 10, gene ZMYND11 (zinc finger MYND-type containing 11): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; [] | ATTACAGCAGACAGTGAGCAAGCTGACATTGCGAGGATGCTATATAAAGACACATGTCATGAGGTACTATTCATTGCCCAATAGTTATACTCTTTCTATAACTGAAATTAATTTATTTCAGGATTCCACTCTTATCTACATTTTAGTTGTGCCATTTCCTTTAAATGTCTTTTATTGCCGGGCGTGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCACGAGATCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGG... | ATTACAGCAGACAGTGAGCAAGCTGACATTGCGAGGATGCTATATAAAGACACATGTCATGAGGTACTATTCATTGCCCAATAGTTATACTCTTTCTATAACTGAAATTAATTTATTTCAGGATTCCACTCTTATCTACATTTTAGTTGTGCCATTTCCTTTAAATGTCTTTTATTGCCGGGCGTGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCACGAGATCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGG... | pathogenic | 156,998 |
Is the variant located on chromosome 10 at position 248422, gene ZMYND11, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Intellectual_disability,_autosomal_dominant_30'] | TACAGTATTCAGAACAACAAATAACTTTAAAAGGACTTATGAAGAATACAGATATGAACTAGGACAAGCTAAGCTGATTGAATTGTGAACAATTGGGAGGCATTTGTGAATCCAGTTCTGAGAACTTTTGTCGACTGTGAAAGACAAAACAAATCTCATTTATTTTCCGCTTGGTAACAGTTTATTTATTCAAGCCATGACGAAGCCTAAGTGATTGTGGTTTTCGCAATTAAAAGTAACGGCAGAACCCACAATTGCTTTTGCACCAAGCTAACAGACGAGAACTGCCACAGGTCGCACTTTATGGCAGGCAGGGTCCA... | TACAGTATTCAGAACAACAAATAACTTTAAAAGGACTTATGAAGAATACAGATATGAACTAGGACAAGCTAAGCTGATTGAATTGTGAACAATTGGGAGGCATTTGTGAATCCAGTTCTGAGAACTTTTGTCGACTGTGAAAGACAAAACAAATCTCATTTATTTTCCGCTTGGTAACAGTTTATTTATTCAAGCCATGACGAAGCCTAAGTGATTGTGGTTTTCGCAATTAAAAGTAACGGCAGAACCCACAATTGCTTTTGCACCAAGCTAACAGACGAGAACTGCCACAGGTCGCACTTTATGGCAGGCAGGGTCCA... | pathogenic | 157,007 |
Determine if the mutation at chromosome 10, position 248491 in gene ZMYND11 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | TAAGCTGATTGAATTGTGAACAATTGGGAGGCATTTGTGAATCCAGTTCTGAGAACTTTTGTCGACTGTGAAAGACAAAACAAATCTCATTTATTTTCCGCTTGGTAACAGTTTATTTATTCAAGCCATGACGAAGCCTAAGTGATTGTGGTTTTCGCAATTAAAAGTAACGGCAGAACCCACAATTGCTTTTGCACCAAGCTAACAGACGAGAACTGCCACAGGTCGCACTTTATGGCAGGCAGGGTCCACTGAAGCCCTCTTTTACCACCCTTCCTGCCATTTGGGATGTTTCTAACTATACCTTTATGTGTTTTTCC... | TAAGCTGATTGAATTGTGAACAATTGGGAGGCATTTGTGAATCCAGTTCTGAGAACTTTTGTCGACTGTGAAAGACAAAACAAATCTCATTTATTTTCCGCTTGGTAACAGTTTATTTATTCAAGCCATGACGAAGCCTAAGTGATTGTGGTTTTCGCAATTAAAAGTAACGGCAGAACCCACAATTGCTTTTGCACCAAGCTAACAGACGAGAACTGCCACAGGTCGCACTTTATGGCAGGCAGGGTCCACTGAAGCCCTCTTTTACCACCCTTCCTGCCATTTGGGATGTTTCTAACTATACCTTTATGTGTTTTTCC... | pathogenic | 157,008 |
Chromosome 10, position 12084695, gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['2-aminoadipic_2-oxoadipic_aciduria'] | CCCTTTTCTTGAGCCTCTGCAGAAAGATTTGATTTCTCAGCACCTCATAAAAGCAAACACGTTAATGTGGAAAACATAAAGCGACATGATTAATGGCTCAGTTGGAATATAGTGGTGATGCATCTTAACTTCCTCAAAAGACCAATACTTTAAATCTTTTTATACAAAAAAGAAATACAATGAACTTTGTTGTAAGAAACCATGAGTTGGCCGGGTGCGGTGGCTCATGCTGGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTC... | CCCTTTTCTTGAGCCTCTGCAGAAAGATTTGATTTCTCAGCACCTCATAAAAGCAAACACGTTAATGTGGAAAACATAAAGCGACATGATTAATGGCTCAGTTGGAATATAGTGGTGATGCATCTTAACTTCCTCAAAAGACCAATACTTTAAATCTTTTTATACAAAAAAGAAATACAATGAACTTTGTTGTAAGAAACCATGAGTTGGCCGGGTGCGGTGGCTCATGCTGGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTC... | pathogenic | 157,379 |
A mutation at chromosome position 12089015 on chromosome 10 in gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['2-aminoadipic_2-oxoadipic_aciduria'] | GTGAACCACCATGCCTGGCCTGGTCTTACTTCTTAAGAACTAAAGATACTTAAGTTCAGAACTTAATCTGAGATGATCAAAAGATGACATGTGGAAGACAGGCTCAGTACAAATGAATGGAACTGAACCTCTGCTGGGGCTGTGACCAGGACTCTGGAATGTCAAGATGGCAAGAAGCCCCTTCCTAATAGTTTGGGTAGTTGGATAGTTTGCAGCCTTGATTCATACCGTAGAGCCCCGTGTGAAAACTGGGGTACTGGGAAGAGGCAGCAGAAATCTAAGGCCTGGATTCCAGTCCAGAAGAACACACATTCTAAGGG... | GTGAACCACCATGCCTGGCCTGGTCTTACTTCTTAAGAACTAAAGATACTTAAGTTCAGAACTTAATCTGAGATGATCAAAAGATGACATGTGGAAGACAGGCTCAGTACAAATGAATGGAACTGAACCTCTGCTGGGGCTGTGACCAGGACTCTGGAATGTCAAGATGGCAAGAAGCCCCTTCCTAATAGTTTGGGTAGTTGGATAGTTTGCAGCCTTGATTCATACCGTAGAGCCCCGTGTGAAAACTGGGGTACTGGGAAGAGGCAGCAGAAATCTAAGGCCTGGATTCCAGTCCAGAAGAACACACATTCTAAGGG... | pathogenic | 157,386 |
Does the chromosome 10 mutation at position 12097732 within gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['2-aminoadipic_2-oxoadipic_aciduria', 'Charcot-Marie-Tooth_disease_axonal_type_2Q'] | GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTCCAGCCTGGGTGGCATAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAATTAGCTGGCGTTGTGGCGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAACAGAATCGCTTGAACTGGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCG... | GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATCGCACCACTGCACTCCAGCCTGGGTGGCATAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAATTAGCTGGCGTTGTGGCGCGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAACAGAATCGCTTGAACTGGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCG... | pathogenic | 157,399 |
Located at chromosome 10 position 12117748, the variant affecting gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['DHTKD1-related_disorder'] | AGCATCACCAAACATTTAGGAAGAGTTAATGCAATGCCTTTAGCACCATTTTTCTGATGGGGCTCTTTTTTTTCTTTTTTTTGTTATTTTGAGAGTCTCGCTTTGTTGCCTAGGCTGGCATGCAGCGGCATAATCTTAGCTCACTGCAACCTTTGCCTACTGAGTTCAAGCAAGGCCTCAGCCTCCGACGTAGCTGGGACTATTAGGTGTGTGCCACCACACCCAGCAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATATCAGCTCACTGCAACCTCCATT... | AGCATCACCAAACATTTAGGAAGAGTTAATGCAATGCCTTTAGCACCATTTTTCTGATGGGGCTCTTTTTTTTCTTTTTTTTGTTATTTTGAGAGTCTCGCTTTGTTGCCTAGGCTGGCATGCAGCGGCATAATCTTAGCTCACTGCAACCTTTGCCTACTGAGTTCAAGCAAGGCCTCAGCCTCCGACGTAGCTGGGACTATTAGGTGTGTGCCACCACACCCAGCAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATATCAGCTCACTGCAACCTCCATT... | pathogenic | 157,431 |
Variant at chromosome position 12118801, chromosome 10, gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['2-aminoadipic_2-oxoadipic_aciduria', 'Charcot-Marie-Tooth_disease_axonal_type_2Q'] | GTGGCATGATCATGGCTCATTGCAACTTCCGCCTCCCAAGCTCAAACTTCTAGCCTCCCACCTCATCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCCAATTTTTGTATTTTTTTGTAGAGATGGGGTTTCACCATCTTGCCTAGGCTGGTCTCAAACTTGTGAGTTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTTCTAGGATCACAGGCTGGAGCCACTGCAACTGGCCAGTTTTGGTTTGTTTTGTTTCGGATGAGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGCGATTTCA... | GTGGCATGATCATGGCTCATTGCAACTTCCGCCTCCCAAGCTCAAACTTCTAGCCTCCCACCTCATCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACACCTGGCCAATTTTTGTATTTTTTTGTAGAGATGGGGTTTCACCATCTTGCCTAGGCTGGTCTCAAACTTGTGAGTTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTTCTAGGATCACAGGCTGGAGCCACTGCAACTGGCCAGTTTTGGTTTGTTTTGTTTCGGATGAGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGCGATTTCA... | pathogenic | 157,438 |
Determine if the mutation at chromosome 10, position 13109191 in gene OPTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'OPTN-related_disorder', 'Primary_open_angle_glaucoma'] | GGCCAGCAGATCACCTGAAGTCAGGAGTTCGAGACCGGCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCT... | GGCCAGCAGATCACCTGAAGTCAGGAGTTCGAGACCGGCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCT... | pathogenic | 157,453 |
Determine if the mutation at chromosome 10, position 13110504 in gene OPTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GATACCTTGCCCATGTCTACATATATCCTGATCATCATGATGTCATACCCTCGTCTCCCTCCCCCATTTCCCAAATCCTTATTGTACCCTTTTTTTTTTTTTTTGGTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCAACACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCT... | GATACCTTGCCCATGTCTACATATATCCTGATCATCATGATGTCATACCCTCGTCTCCCTCCCCCATTTCCCAAATCCTTATTGTACCCTTTTTTTTTTTTTTTGGTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCAACACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCT... | benign | 157,466 |
Clinically, how would you classify the variant at chromosome 10, position 13112454, gene OPTN (optineurin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | TGAGTCATGAGAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTA... | TGAGTCATGAGAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTA... | pathogenic | 157,469 |
For chromosome 10, position 13112464, gene OPTN (optineurin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'OPTN-related_disorder', 'Primary_open_angle_glaucoma'] | GAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTAAGGTTATAAA... | GAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTAAGGTTATAAA... | pathogenic | 157,470 |
Mutation at chromosome 10, position 13124028, within OPTN (optineurin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'Primary_open_angle_glaucoma'] | GTGACTTTTAAACTTAGCTGTGTCCTAAAAGGAAAAGTCTTTCCTTCTCTAATGAATTCTTATGAATGAGATACCATGTTCATGGAACACACATGCATCCACATGTGTAAACACAAACAATTTCAAAAACATTGCTGCATAGGACAGTTGCATGGAAACAAATGGTGTTCAAGATGAGTTTCACTTGCCTTTTACCTCTGTGTGTATTTGTCTGTGAATCAATTCTAGCCAATTTTAGGATGAAAAATAAAACTAATGCTAATATAGTGAATGTGTAGAGATTTTGAAAACCCCTGATCCTTTATCCCAATTGTAAACAA... | GTGACTTTTAAACTTAGCTGTGTCCTAAAAGGAAAAGTCTTTCCTTCTCTAATGAATTCTTATGAATGAGATACCATGTTCATGGAACACACATGCATCCACATGTGTAAACACAAACAATTTCAAAAACATTGCTGCATAGGACAGTTGCATGGAAACAAATGGTGTTCAAGATGAGTTTCACTTGCCTTTTACCTCTGTGTGTATTTGTCTGTGAATCAATTCTAGCCAATTTTAGGATGAAAAATAAAACTAATGCTAATATAGTGAATGTGTAGAGATTTTGAAAACCCCTGATCCTTTATCCCAATTGTAAACAA... | pathogenic | 157,495 |
Mutation found at chromosome 10 position 13125493, gene OPTN (optineurin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'Primary_open_angle_glaucoma'] | GAAAACAGATGAAGAGACCACCAGTGAATAATAGTTCCCTGTTGACTAAAACGAATTCAACAGCCAGTAGCAGGGAAATATGGTCTTTCAAGGCATCAGAAACTCATTTACAAAAATTATAGAGCTGCCAGGAAAAAGGCTGCACAACAAAAATAGTTGAGTAAACTAGAAACATACACTGGGAAGAGAGTATGGGGGCAAGTTGTTAGCTGGATAGATAGGACTGTGCTTTGACACCTCTGTGGTCTATGATCTCTGAACCTGGAATAGGGTTCATTTTAATAGCGATAAAGTCATTATCCCAGTGCATCCAAATTGAT... | GAAAACAGATGAAGAGACCACCAGTGAATAATAGTTCCCTGTTGACTAAAACGAATTCAACAGCCAGTAGCAGGGAAATATGGTCTTTCAAGGCATCAGAAACTCATTTACAAAAATTATAGAGCTGCCAGGAAAAAGGCTGCACAACAAAAATAGTTGAGTAAACTAGAAACATACACTGGGAAGAGAGTATGGGGGCAAGTTGTTAGCTGGATAGATAGGACTGTGCTTTGACACCTCTGTGGTCTATGATCTCTGAACCTGGAATAGGGTTCATTTTAATAGCGATAAAGTCATTATCCCAGTGCATCCAAATTGAT... | pathogenic | 157,499 |
Evaluate the clinical significance of the mutation at chromosome 10, position 13125998 in gene OPTN (optineurin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'OPTN-related_disorder', 'Primary_open_angle_glaucoma'] | CAGATGATAATTGTACAGATATGTTTGGGATTTCCCGTATGATAGGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCGAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTAAGAATGAGAGAGCAATTTTATCCTCCTTTGAAATATACATTTTTACAAAGTATACTACTATATAAAAACATAGTTTTTTAACTATGTTATGACTAAAAGAAAAATAGACACCTAATTAAAATATAAATTCAGAATATACTAATGTTCCAGTTAATG... | CAGATGATAATTGTACAGATATGTTTGGGATTTCCCGTATGATAGGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCGAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTAAGAATGAGAGAGCAATTTTATCCTCCTTTGAAATATACATTTTTACAAAGTATACTACTATATAAAAACATAGTTTTTTAACTATGTTATGACTAAAAGAAAAATAGACACCTAATTAAAATATAAATTCAGAATATACTAATGTTCCAGTTAATG... | pathogenic | 157,504 |
Variant chromosome 10, position 13126035, gene OPTN (optineurin): benign or pathogenic? Disease(s)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'Primary_open_angle_glaucoma'] | TATGATAGGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCGAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTAAGAATGAGAGAGCAATTTTATCCTCCTTTGAAATATACATTTTTACAAAGTATACTACTATATAAAAACATAGTTTTTTAACTATGTTATGACTAAAAGAAAAATAGACACCTAATTAAAATATAAATTCAGAATATACTAATGTTCCAGTTAATGTGTGAGCATGAAATACTTGTAAGATGGGGGGTTGGGG... | TATGATAGGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCGAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTAAGAATGAGAGAGCAATTTTATCCTCCTTTGAAATATACATTTTTACAAAGTATACTACTATATAAAAACATAGTTTTTTAACTATGTTATGACTAAAAGAAAAATAGACACCTAATTAAAATATAAATTCAGAATATACTAATGTTCCAGTTAATGTGTGAGCATGAAATACTTGTAAGATGGGGGGTTGGGG... | pathogenic | 157,505 |
Variant in OPTN (optineurin), chromosome 10, position 13127804—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_12', 'Glaucoma_1,_open_angle,_E', 'Primary_open_angle_glaucoma'] | ATTGTTTGCACTCTGTCTTGATTTTTCAGAAAAGATTTTTTTTGAGAGTAAGAAATGCTAGTAGGTCGTGGGGTGATAAAGGTAGGCGAGAAGATTTTTCTACTGGAGTGTTCAGAAGGTTGGGAGGCAAGACTATAAGTTTCTATGATATTTTCCCCAGGATTCCATTTTTTAATATCTTTTTTAATAGGTCCAAATTAACTGTGCTACAGATGACACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAGGTATTCACTGAAAAAAATTACTTCCATAGCCTAGTA... | ATTGTTTGCACTCTGTCTTGATTTTTCAGAAAAGATTTTTTTTGAGAGTAAGAAATGCTAGTAGGTCGTGGGGTGATAAAGGTAGGCGAGAAGATTTTTCTACTGGAGTGTTCAGAAGGTTGGGAGGCAAGACTATAAGTTTCTATGATATTTTCCCCAGGATTCCATTTTTTAATATCTTTTTTAATAGGTCCAAATTAACTGTGCTACAGATGACACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAGGTATTCACTGAAAAAAATTACTTCCATAGCCTAGTA... | pathogenic | 157,506 |
A genetic variant on chromosome 10, position 13132206, affects the gene OPTN (optineurin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGACACTGTTCTTACTGCCTGG... | GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGACACTGTTCTTACTGCCTGG... | benign | 157,509 |
A genetic alteration at chromosome 10, position 13278111, in gene PHYH (phytanoyl-CoA 2-hydroxylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGCTATTAGTCTCAAAATTCACAGAAGAGGATCCTTGCAATTTGTTTTGTTTTGTGATTTGTTCGAGCACCTTATAAAGTCCTTTTAGACTAGACTTTGGTGAAATGGACATGAGCCCAGGACAAATCCCCTCCCACCTCCCCTCAGTCTGATGAAATCTGGTGGAATTCCTTCCCTGACTCTTCATTTTCCAGCCAACCCTGACTGCCACCTTTCACAGGACAGGTCCGCGCGGACAGTTTGAGGCACCCTACCTCATCCTGACATCTAGTCCCACTTCATAGAGTAGGTGCTTGGATATTTTAGCCGGGCGCGGTGGC... | AGCTATTAGTCTCAAAATTCACAGAAGAGGATCCTTGCAATTTGTTTTGTTTTGTGATTTGTTCGAGCACCTTATAAAGTCCTTTTAGACTAGACTTTGGTGAAATGGACATGAGCCCAGGACAAATCCCCTCCCACCTCCCCTCAGTCTGATGAAATCTGGTGGAATTCCTTCCCTGACTCTTCATTTTCCAGCCAACCCTGACTGCCACCTTTCACAGGACAGGTCCGCGCGGACAGTTTGAGGCACCCTACCTCATCCTGACATCTAGTCCCACTTCATAGAGTAGGTGCTTGGATATTTTAGCCGGGCGCGGTGGC... | benign | 157,522 |
Evaluate the clinical significance of the mutation at chromosome 10, position 13283706 in gene PHYH (phytanoyl-CoA 2-hydroxylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Phytanic_acid_storage_disease'] | TGAGGGTAAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTG... | TGAGGGTAAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTG... | pathogenic | 157,531 |
Evaluate this variant at chromosome 10, position 13283834, gene PHYH (phytanoyl-CoA 2-hydroxylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Phytanic_acid_storage_disease', 'Retinal_dystrophy'] | CTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAG... | CTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAG... | pathogenic | 157,533 |
Is the variant located on chromosome 10 at position 13288517, gene PHYH (phytanoyl-CoA 2-hydroxylase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Phytanic_acid_storage_disease'] | GAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCA... | GAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCA... | pathogenic | 157,544 |
Considering the genetic mutation at chromosome 10, position 13291869, impacting PHYH (phytanoyl-CoA 2-hydroxylase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Phytanic_acid_storage_disease'] | CTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAA... | CTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 157,549 |
Clinical significance of chromosome 10, position 13291900, gene PHYH (phytanoyl-CoA 2-hydroxylase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Phytanic_acid_storage_disease'] | CGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCT... | CGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCT... | pathogenic | 157,550 |
Chromosome 10, position 13291922, gene PHYH (phytanoyl-CoA 2-hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGG... | GGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGG... | benign | 157,551 |
Variant at chromosome 10, position 13291922, gene PHYH (phytanoyl-CoA 2-hydroxylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGG... | GGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGG... | benign | 157,552 |
The mutation impacting PHYH (phytanoyl-CoA 2-hydroxylase) on chromosome 10 at position 13294465: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Phytanic_acid_storage_disease'] | GGAAGCAAGAGTGAACAAGCAAAGCAGGTCCCAGGAGTTAGATGAAAAATGTTAACCCAGTAATGACATGGGTCAGAGTGGCCGAGGGACACTGCATTATGAAGAAAAGGCTAACATGGGGAACCGTGACAGGGAGAGCTGGTTTAGTCGTGGGGCCTGGGAGCTGGGCTGCCGCTACCTTGTGTACAGAACCCAGCAACGGAGAGGGAAAAAGCAGAAAGGGCTCAACACTGAGGTCGGGTGCGTTAGCGCACACCTGTAATCCTAGCACTTTGGGTGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAAACC... | GGAAGCAAGAGTGAACAAGCAAAGCAGGTCCCAGGAGTTAGATGAAAAATGTTAACCCAGTAATGACATGGGTCAGAGTGGCCGAGGGACACTGCATTATGAAGAAAAGGCTAACATGGGGAACCGTGACAGGGAGAGCTGGTTTAGTCGTGGGGCCTGGGAGCTGGGCTGCCGCTACCTTGTGTACAGAACCCAGCAACGGAGAGGGAAAAAGCAGAAAGGGCTCAACACTGAGGTCGGGTGCGTTAGCGCACACCTGTAATCCTAGCACTTTGGGTGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAAACC... | pathogenic | 157,554 |
Clinical classification of chromosome 10, position 13299982, gene PHYH: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Phytanic_acid_storage_disease'] | AAAATAAATAAATAAATGTCGGATTATGTATTTTCTGGTATTTTTCCTTCTTTCTGAATCTTAAAATACATACAGAAAATTAGTCGGTCTCCAAAATTTTCCACAAGTGCACTAATTAGAATAAGTCCTGGAAACAGAGGATTTGTATAATAAAATTCTAATCAGGTAACATATTATGTGGTATATCTTCATTACCACTCAAGAAACTTTTATATACATAATATATTTCAAAATCAAAACTCAAACTACTTACTGGAATTGTTGAGGATGGAAACTGGCAGAGGAAATAGTCCCTGAAGTGGGATGAGCTACCTAGGATG... | AAAATAAATAAATAAATGTCGGATTATGTATTTTCTGGTATTTTTCCTTCTTTCTGAATCTTAAAATACATACAGAAAATTAGTCGGTCTCCAAAATTTTCCACAAGTGCACTAATTAGAATAAGTCCTGGAAACAGAGGATTTGTATAATAAAATTCTAATCAGGTAACATATTATGTGGTATATCTTCATTACCACTCAAGAAACTTTTATATACATAATATATTTCAAAATCAAAACTCAAACTACTTACTGGAATTGTTGAGGATGGAAACTGGCAGAGGAAATAGTCCCTGAAGTGGGATGAGCTACCTAGGATG... | pathogenic | 157,575 |
Evaluate the clinical significance of the mutation at chromosome 10, position 14908817 in gene DCLRE1C (DNA cross-link repair 1C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | ATATCTGTTAAAACTTGTTAAAAATCCTCATACATAACACAAAAGCCTAACACATTGATGGACTTCAAGAATGTTGAATGACTCACAGAATAACACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACC... | ATATCTGTTAAAACTTGTTAAAAATCCTCATACATAACACAAAAGCCTAACACATTGATGGACTTCAAGAATGTTGAATGACTCACAGAATAACACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACC... | pathogenic | 157,601 |
Variant in gene DCLRE1C (DNA cross-link repair 1C), located at chromosome 10 position 14908854: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | CACAAAAGCCTAACACATTGATGGACTTCAAGAATGTTGAATGACTCACAGAATAACACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGC... | CACAAAAGCCTAACACATTGATGGACTTCAAGAATGTTGAATGACTCACAGAATAACACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGC... | pathogenic | 157,602 |
Classify the chromosome 10 variant at position 14908911 affecting gene DCLRE1C (DNA cross-link repair 1C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | ACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATT... | ACATATACTTTAGTTTTTTTTAATTTATTTTTCTTGAGATGGGGTCTTGCTTTGTTGCCCAGGCTGGGCACAATCAGCTCACTGCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATT... | pathogenic | 157,603 |
Chromosome 10, position 14908994, gene DCLRE1C (DNA cross-link repair 1C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Histiocytic_medullary_reticulosis'] | GCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGA... | GCAGTTTCAACCTCCTGGGCTCAATCCATCCTGCCACCTAAGCCTTCCAAGTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGA... | pathogenic | 157,606 |
Chromosome 10, position 14909044, gene DCLRE1C (DNA cross-link repair 1C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | GTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTT... | GTAGCGAGGACTACAGGTGCACACCACCATGTCTGGCTAACATTTTGTGGAGACAGGGTCTCCCTGTGTGTTGCCCAGGCTGGACTCAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTT... | pathogenic | 157,607 |
The mutation in gene DCLRE1C (DNA cross-link repair 1C) at chromosome 10, position 14909130—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Athabaskan_severe_combined_immunodeficiency', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_partial', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | CAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTG... | CAAAACCCTGAGCTCAAGCGAGCCTCCCAAAGTACTGGGATTGCAGGCAGGAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTG... | pathogenic | 157,608 |
A genetic variant on chromosome 10, position 14909180, affects the gene DCLRE1C (DNA cross-link repair 1C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | GAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTGGTGTGTTCTATAAATGTCAATTTAATCCAGTCGGCTTATGATTTTCAGTT... | GAGTTACTGTGCCTGGCCACCATTTAATTCTTGAGCATTTTCTTTTATATTCTAATTGTCCGCTTCTAATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTGGTGTGTTCTATAAATGTCAATTTAATCCAGTCGGCTTATGATTTTCAGTT... | pathogenic | 157,610 |
Gene DCLRE1C (DNA cross-link repair 1C) variant at chromosome 10, position 14909248—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_disease', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | ATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTGGTGTGTTCTATAAATGTCAATTTAATCCAGTCGGCTTATGATTTTCAGTTCTATATTCTTACTGATTAATGTGTATATACTAGTTCTGTTACTAAGGAGGGATGTTAAATTAATCCCT... | ATTTGGCCACCGTATTCACATCAAGGTTAAGTGACTTAACATCTTTGGGGATAAATAAGGTGCTGATTTTGTCTATAGCCATCAGTTTATCATACTAGATCCAAGTTTGTCAATTTAAATCAGGTGTGTTTATGAGCAAAGATATGATCATGCTGAATGTTCCATGTGTACTTCAGGAGATACATTCTGCTAGTTTGGGGTGGTGTGTTCTATAAATGTCAATTTAATCCAGTCGGCTTATGATTTTCAGTTCTATATTCTTACTGATTAATGTGTATATACTAGTTCTGTTACTAAGGAGGGATGTTAAATTAATCCCT... | pathogenic | 157,614 |
Evaluate this variant at chromosome 10, position 14919790, gene DCLRE1C (DNA cross-link repair 1C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | GGGAGGTTGAGGTTGCAGTGAGCTGTGATTGTGCCACTGTACTCCAGTCTGGGTGACAGCAAGACTCTGTCTCAAAACAAAACAAACCCAACAATTTAAAAATGAGTAAAGATTTGAATAGACACTTCACCAATGAAGATACATGGATGGCAAATACGCACATTAAAAGATGCACAACCTTGCTAGTCATTAGAGAAATGCAAATTAAAACCACAAAGAGCTATCACTGCACACCTATTAGGATATTTAAAATTAAAAAGTCTAACCATACCAAGTATTGGCAACGATGTGGAGCAACTGAACTCTCATACACTTCTCCT... | GGGAGGTTGAGGTTGCAGTGAGCTGTGATTGTGCCACTGTACTCCAGTCTGGGTGACAGCAAGACTCTGTCTCAAAACAAAACAAACCCAACAATTTAAAAATGAGTAAAGATTTGAATAGACACTTCACCAATGAAGATACATGGATGGCAAATACGCACATTAAAAGATGCACAACCTTGCTAGTCATTAGAGAAATGCAAATTAAAACCACAAAGAGCTATCACTGCACACCTATTAGGATATTTAAAATTAAAAAGTCTAACCATACCAAGTATTGGCAACGATGTGGAGCAACTGAACTCTCATACACTTCTCCT... | pathogenic | 157,616 |
Clinical classification of chromosome 10, position 14926910, gene DCLRE1C (DNA cross-link repair 1C): benign or pathogenic? Disease(s) if pathogenic? | benign | TAAAAATTAAAAAATTAAAAAAAAAATCATCCATTACTAAGTTGATAATGAGAACACAAAGACTTTTATGCCCTTCTGCAAATGGACAGACTAGAACCCAATGTAATTATTAGTATCCCACCAAACTGAAAGAGGCAGAAACCCAAGAATTGCCAATAACTCTACATAAAAATAAAAGGGCTACTTTAAGACAGTGGAAAGGCAGGAAGATCTATTCTTTAAATAGTTTTCACAAACAGTATCTTTTGTACCTTCACAGGAGGCATGCAAATAGAAATCATTACCTGCCCGCCCAACACCGATTTGATTTGCACAAAGCT... | TAAAAATTAAAAAATTAAAAAAAAAATCATCCATTACTAAGTTGATAATGAGAACACAAAGACTTTTATGCCCTTCTGCAAATGGACAGACTAGAACCCAATGTAATTATTAGTATCCCACCAAACTGAAAGAGGCAGAAACCCAAGAATTGCCAATAACTCTACATAAAAATAAAAGGGCTACTTTAAGACAGTGGAAAGGCAGGAAGATCTATTCTTTAAATAGTTTTCACAAACAGTATCTTTTGTACCTTCACAGGAGGCATGCAAATAGAAATCATTACCTGCCCGCCCAACACCGATTTGATTTGCACAAAGCT... | benign | 157,620 |
For chromosome 10, position 14934386, gene DCLRE1C (DNA cross-link repair 1C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | AGAAAACTATAAAGATCTGGTTGGGGGTGGTGGCTCACGCCTGTAGTACCAGCACTTTGGGAGGCCGAGGGAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGCTAACCTCGTCTGTAGTAAAAATAACAAAAAATTAGCCGTGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACACGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCTAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGTACAGATCTG... | AGAAAACTATAAAGATCTGGTTGGGGGTGGTGGCTCACGCCTGTAGTACCAGCACTTTGGGAGGCCGAGGGAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGCTAACCTCGTCTGTAGTAAAAATAACAAAAAATTAGCCGTGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACACGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCTAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGTACAGATCTG... | pathogenic | 157,628 |
A genetic alteration at chromosome 10, position 14935465, in gene DCLRE1C (DNA cross-link repair 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | ACTTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCTCAGGCCTGTAATCCAAGCTACTCGGGAGTCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGACCGTGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACAGTCTCAAAAAAGAAAAAAAAAAATCAAGAATCACCTTAAAGGCATATACATGATGTACAACAGAGGAGCATGTACTGCAAATAATCCACTGCCATATCTCCTTGTTC... | ACTTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCTCAGGCCTGTAATCCAAGCTACTCGGGAGTCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGACCGTGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACAGTCTCAAAAAAGAAAAAAAAAAATCAAGAATCACCTTAAAGGCATATACATGATGTACAACAGAGGAGCATGTACTGCAAATAATCCACTGCCATATCTCCTTGTTC... | pathogenic | 157,640 |
Is the genetic variant on chromosome 10, position 14936568, gene DCLRE1C (DNA cross-link repair 1C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | CCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTG... | CCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTG... | pathogenic | 157,648 |
Variant on chromosome 10, at position 14936586, affecting DCLRE1C (DNA cross-link repair 1C): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | GAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTGTTTTTTGAGATGGAGTTT... | GAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTGTTTTTTGAGATGGAGTTT... | pathogenic | 157,649 |
Does the variant on chromosome 10 at location 14945159 affecting gene DCLRE1C (DNA cross-link repair 1C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | TGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGACA... | TGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGACA... | pathogenic | 157,656 |
Considering the variant on chromosome 10, location 16835064, involving gene CUBN (cubilin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Imerslund-Grasbeck_syndrome'] | TAATGAAGGACAGCTAGGAGGAGGAATTCTCACTCTCCACGGCTGGAAAGCAAGGCTTTGCTTCCCAGCATCTATCAGGCAAATGGCAAACGTTGACTCTGATCAATAATGGTCCATTCAAGCTGGAGTGAGTTAAGAGTTAGTTGCACTGTGACTCCAACCTAACGGGATTATTCCATCTTTCCTCCAGATCCCACTCTCCTCATTCTTTCTGCTTTACACTTCATATAAATATTTGGATCTCCATGGTGGGGGAGGTACACAGGTCCAAGTTGAATAACCTGACCGGCACAAAGAATAACTGTATTTGCCTCTTCATT... | TAATGAAGGACAGCTAGGAGGAGGAATTCTCACTCTCCACGGCTGGAAAGCAAGGCTTTGCTTCCCAGCATCTATCAGGCAAATGGCAAACGTTGACTCTGATCAATAATGGTCCATTCAAGCTGGAGTGAGTTAAGAGTTAGTTGCACTGTGACTCCAACCTAACGGGATTATTCCATCTTTCCTCCAGATCCCACTCTCCTCATTCTTTCTGCTTTACACTTCATATAAATATTTGGATCTCCATGGTGGGGGAGGTACACAGGTCCAAGTTGAATAACCTGACCGGCACAAAGAATAACTGTATTTGCCTCTTCATT... | pathogenic | 157,735 |
The chromosome 10, position 16901394 genetic variant in gene CUBN (cubilin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | GGAAAGGTGAGTTAAATTGAGAGAAAATTTCAGCTGTTACAGTTGTGTTACAATGATATTGAATTCAACCAAGAACACTAATCCGTGCCATAGAGAGGATAGATTTCCATCCTGTCTCCAAACAAGAGCTGTATTTTTATTCTCTTTGAGCCTATGTAGTATATGTAACCTGGCAATGCTAAGTTCTGTATTTTATTACCATTCACACATGAGAATATTACTCTACACTCCATTTGCAACGTTACTCTAACTGGACTAGAGAAAGTGATTTTGAGTTGGGGAAAATTCTTTTATTAAGCAATCTGATTGATTCATATTGA... | GGAAAGGTGAGTTAAATTGAGAGAAAATTTCAGCTGTTACAGTTGTGTTACAATGATATTGAATTCAACCAAGAACACTAATCCGTGCCATAGAGAGGATAGATTTCCATCCTGTCTCCAAACAAGAGCTGTATTTTTATTCTCTTTGAGCCTATGTAGTATATGTAACCTGGCAATGCTAAGTTCTGTATTTTATTACCATTCACACATGAGAATATTACTCTACACTCCATTTGCAACGTTACTCTAACTGGACTAGAGAAAGTGATTTTGAGTTGGGGAAAATTCTTTTATTAAGCAATCTGATTGATTCATATTGA... | pathogenic | 157,789 |
Regarding the variant found on chromosome 10 at position 16913872 in gene CUBN (cubilin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CTCCAAATATTGCTCAATAAGCATCCATTATATTTATAACCAGAAAAATAGATTAAAATCAGAATTCAAGTGGATTTATATCACATGATTACAAGTACATAAAGTATGCTTTGCCAAGAAGAGATGAGAAAATGAATCAAAATGTGGTATAGTGGGAGTGGTTAGTATTTTTTCTACTTCATCTTTGTTTATATAATTCAATCAATAATAGGAAAAAAGTTTCTTTATAATAAACAACCTTAGTCCAAAATTTCCTGGCTCTCAAATAAAAGAAAACACACTTGGTTTCTTATTTTCAAGATCTGAAAGAAAACAGTTCA... | CTCCAAATATTGCTCAATAAGCATCCATTATATTTATAACCAGAAAAATAGATTAAAATCAGAATTCAAGTGGATTTATATCACATGATTACAAGTACATAAAGTATGCTTTGCCAAGAAGAGATGAGAAAATGAATCAAAATGTGGTATAGTGGGAGTGGTTAGTATTTTTTCTACTTCATCTTTGTTTATATAATTCAATCAATAATAGGAAAAAAGTTTCTTTATAATAAACAACCTTAGTCCAAAATTTCCTGGCTCTCAAATAAAAGAAAACACACTTGGTTTCTTATTTTCAAGATCTGAAAGAAAACAGTTCA... | pathogenic | 157,807 |
Does the variant on chromosome 10 at location 16916031 affecting gene CUBN (cubilin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CCACCACACTCTGACGTGGGGAAAAAGCCAAGAAAACTTTCAATCAAATCAAAATGTTTCCTTCCATCAAGAAAGCTCTCAAAATTCAGGTATTTAAAAATTATCCTTCTAGATAAAATTAGTCTCCATATTTATTTATGTGCATGAGGATTTTAGTGAACATATACATTCATTTTTTATCTCTATTAATATTTAACCCTGCCTTCCATGGGTGATAGTCCACAGGCAGCAATTTAGTTATCATCATGGCCCAAGAAATGAGAGACCAATGAATGTAATGAACTTAAGAATCAGGAAAATCGGGCCAGGCATGGTGGTTC... | CCACCACACTCTGACGTGGGGAAAAAGCCAAGAAAACTTTCAATCAAATCAAAATGTTTCCTTCCATCAAGAAAGCTCTCAAAATTCAGGTATTTAAAAATTATCCTTCTAGATAAAATTAGTCTCCATATTTATTTATGTGCATGAGGATTTTAGTGAACATATACATTCATTTTTTATCTCTATTAATATTTAACCCTGCCTTCCATGGGTGATAGTCCACAGGCAGCAATTTAGTTATCATCATGGCCCAAGAAATGAGAGACCAATGAATGTAATGAACTTAAGAATCAGGAAAATCGGGCCAGGCATGGTGGTTC... | pathogenic | 157,815 |
Clinical classification of chromosome 10, position 16918687, gene CUBN (cubilin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CUBN-related_disorder', 'Chronic_kidney_disease', 'Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | GCTTTCTGAACTTTCGCGGTATTAAATATTTGTTTGGTTTGTGTCTAAACCTATTAGATACCAAATTATGTGCTATTGTGACCATATTATAGTGAATCTTCAACCGCTCATTTTTTAAATAAGGAAATCAAAATGCTGAAGAGGCATATTTGCTTTCTTTTTTTCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGCCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGTAGGAATTACAGGT... | GCTTTCTGAACTTTCGCGGTATTAAATATTTGTTTGGTTTGTGTCTAAACCTATTAGATACCAAATTATGTGCTATTGTGACCATATTATAGTGAATCTTCAACCGCTCATTTTTTAAATAAGGAAATCAAAATGCTGAAGAGGCATATTTGCTTTCTTTTTTTCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGCCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGTAGGAATTACAGGT... | pathogenic | 157,819 |
Regarding the variant found on chromosome 10 at position 16918720 in gene CUBN (cubilin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | TTGGTTTGTGTCTAAACCTATTAGATACCAAATTATGTGCTATTGTGACCATATTATAGTGAATCTTCAACCGCTCATTTTTTAAATAAGGAAATCAAAATGCTGAAGAGGCATATTTGCTTTCTTTTTTTCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGCCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGTAGGAATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTGTATTT... | TTGGTTTGTGTCTAAACCTATTAGATACCAAATTATGTGCTATTGTGACCATATTATAGTGAATCTTCAACCGCTCATTTTTTAAATAAGGAAATCAAAATGCTGAAGAGGCATATTTGCTTTCTTTTTTTCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGCCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGTAGGAATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTGTATTT... | pathogenic | 157,821 |
A genetic variant at chromosome 10, position 16937601, affecting gene CUBN (cubilin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['CUBN-related_disorder', 'Imerslund-Grasbeck_syndrome', 'Proteinuria,_chronic_benign'] | GATTTAAAATAAATATATGTGTGTATAAGAAATGCTGATAGGACAGGACGGATGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACACGGTGAAACCCCATCTGTACTAAAAATACAAAAAAATCAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTATGAACTCGGGAGGCGGAGCTTGCAGAGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT... | GATTTAAAATAAATATATGTGTGTATAAGAAATGCTGATAGGACAGGACGGATGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACACGGTGAAACCCCATCTGTACTAAAAATACAAAAAAATCAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTATGAACTCGGGAGGCGGAGCTTGCAGAGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT... | pathogenic | 157,844 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 16952389, gene CUBN (cubilin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CTTGAAGGGATGGATACCCCATTTCCATGATGGGATTATTTCACATTGCATGCCTGTATCAAAACATCTCATGTACCCCATACATATATACATCTACTATGTACCCACAAAAATTAACAATAAAATTTTTTTACAAAATAAAATTAAAATTAAAAAACATACAGGGAGATAAATTTTACTTCTGGTAATTTCATGTAAGGGTTCTCCAGCAGAGAAGTAATGAATGAGGCGGATTTGCACATGGTTGAAGGGATAAAGCAAGGGAAGGGGACAACTTCTATCCTAGATGGTTTCCTTTGAAGAGTAATAGAATAGATGGT... | CTTGAAGGGATGGATACCCCATTTCCATGATGGGATTATTTCACATTGCATGCCTGTATCAAAACATCTCATGTACCCCATACATATATACATCTACTATGTACCCACAAAAATTAACAATAAAATTTTTTTACAAAATAAAATTAAAATTAAAAAACATACAGGGAGATAAATTTTACTTCTGGTAATTTCATGTAAGGGTTCTCCAGCAGAGAAGTAATGAATGAGGCGGATTTGCACATGGTTGAAGGGATAAAGCAAGGGAAGGGGACAACTTCTATCCTAGATGGTTTCCTTTGAAGAGTAATAGAATAGATGGT... | pathogenic | 157,880 |
Is the genetic change at chromosome 10, position 16982489, within gene CUBN (cubilin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CAAATGTGCATCAATGATAGGCTGGATAAAGAAAATGTGGCACCTATACACCATGGAATACTTTGTAGCCATAAAAAAGGATGAGTTCATGTACTTTGAAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAGGAACAAAAAACCAAACACCGCATATTCTCACTCGTAAGTGGGAGTTGAACAATGAGAACGCATGGACACAGGGAGGGGAACATCACACACCGGTGCCTGTCGAGGGGTGGGGGGCTAAGGGAGGGATAGCATTAGGAGAAATACCTTATGTAGATGACGGGTTGATGAGTGC... | CAAATGTGCATCAATGATAGGCTGGATAAAGAAAATGTGGCACCTATACACCATGGAATACTTTGTAGCCATAAAAAAGGATGAGTTCATGTACTTTGAAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAGGAACAAAAAACCAAACACCGCATATTCTCACTCGTAAGTGGGAGTTGAACAATGAGAACGCATGGACACAGGGAGGGGAACATCACACACCGGTGCCTGTCGAGGGGTGGGGGGCTAAGGGAGGGATAGCATTAGGAGAAATACCTTATGTAGATGACGGGTTGATGAGTGC... | pathogenic | 157,888 |
Evaluate this variant at chromosome 10, position 16984165, gene CUBN (cubilin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | ACAAACAAAACAGAAATAGTTAACACTATTGCTTCTTCCTTTTTTCAGAGGTAGACTCAGGTAGGACATTCAGATAAAAACCACTGCAGCCATTTTTTGACAATGAAGTAACAACAAAATGAAAAGCCAACAGGCTAATAATGGTAGCGCAGAAACTGACTTGCTAAAAAACCTAGAGATTATCTACTTCCTGATTTGTTTTTAGGTAAAAAATAAATGTCCTTATATTTTAAGTTGCCAATAGTTTGGTTTCCTATGAATCGACATTAAAAACACCCATAAGTAATACATTCACTAAATATGCTTATATGGCAGTGTTT... | ACAAACAAAACAGAAATAGTTAACACTATTGCTTCTTCCTTTTTTCAGAGGTAGACTCAGGTAGGACATTCAGATAAAAACCACTGCAGCCATTTTTTGACAATGAAGTAACAACAAAATGAAAAGCCAACAGGCTAATAATGGTAGCGCAGAAACTGACTTGCTAAAAAACCTAGAGATTATCTACTTCCTGATTTGTTTTTAGGTAAAAAATAAATGTCCTTATATTTTAAGTTGCCAATAGTTTGGTTTCCTATGAATCGACATTAAAAACACCCATAAGTAATACATTCACTAAATATGCTTATATGGCAGTGTTT... | pathogenic | 157,893 |
A genetic variant at chromosome 10, position 17019835, affecting gene CUBN (cubilin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CCTAGAAAAGCAACAGAGACAGGGAGTGGTTTTTAGAAGCGGGACTAGCCTCAGAGAAGAGAGGCGAGAGGAAATTTGTCTGACAGGCATTAGGACCCAGGAGGCAAGGGTCAGGATAGATAGGATAGATGGGCAAGTCTTGCTTGGGTGACATGACTTTGAGAGTTTTACTCATGGCTGCAGGGCCAACCAACTTGTTGTTGGGACCCCAGAGCTGAATGGCTTTCCTCTCTGTCAACCCTCAGCTCAGCCCAGAAGTACAGGAAAAGCGGAAGCTGGTTCCAGGCCAACCAACGCTCCCAACTCCGAAGAGTTGGGGG... | CCTAGAAAAGCAACAGAGACAGGGAGTGGTTTTTAGAAGCGGGACTAGCCTCAGAGAAGAGAGGCGAGAGGAAATTTGTCTGACAGGCATTAGGACCCAGGAGGCAAGGGTCAGGATAGATAGGATAGATGGGCAAGTCTTGCTTGGGTGACATGACTTTGAGAGTTTTACTCATGGCTGCAGGGCCAACCAACTTGTTGTTGGGACCCCAGAGCTGAATGGCTTTCCTCTCTGTCAACCCTCAGCTCAGCCCAGAAGTACAGGAAAAGCGGAAGCTGGTTCCAGGCCAACCAACGCTCCCAACTCCGAAGAGTTGGGGG... | pathogenic | 157,904 |
For chromosome 10, position 17068588, gene CUBN (cubilin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATTTAATATCTTCATCAAAATAAAGGTAGGTGAACTAATTGATATTTTAAATGCCTTCGTATATGCCCATGTATATGAAATTTGGGGAAGATCATTATAGTTTATGCCATTCAGCAAACGTTCTGTATTTTGCAGTGGTGATGTGTTAAGTACCTTCCCAAAAAAGAAAAAGAAGAAAGTTAAAAAGATGAAAGATTAGGATAAGAAGGATATTTAAAACATGAATGAGAAATAAAGAAAATAAAATGCAAGATAAAGACATTTTAAAATATCAAAAGATTTCCATTTCCAACAGAAATGTAATAACAGGCTAGATTTA... | AATTTAATATCTTCATCAAAATAAAGGTAGGTGAACTAATTGATATTTTAAATGCCTTCGTATATGCCCATGTATATGAAATTTGGGGAAGATCATTATAGTTTATGCCATTCAGCAAACGTTCTGTATTTTGCAGTGGTGATGTGTTAAGTACCTTCCCAAAAAAGAAAAAGAAGAAAGTTAAAAAGATGAAAGATTAGGATAAGAAGGATATTTAAAACATGAATGAGAAATAAAGAAAATAAAATGCAAGATAAAGACATTTTAAAATATCAAAAGATTTCCATTTCCAACAGAAATGTAATAACAGGCTAGATTTA... | benign | 157,922 |
Benign or pathogenic: chromosome 10, position 17071554, gene CUBN (cubilin) variant? Disease(s) if pathogenic? | pathogenic | TTTTATTATAGCTATCCTATGGGTGTGTCCTTTTGTTTTTGGCATTTCTTTTTTTTGATACAGGGTCTCACTCTGTTACCCAGGCTAGGGTGCAATGGCACAATCATAGCTCACTGCAGCCTCTACCTCCCAGGCTCAAGTGATCCTCCTACCACAGCCTTCTGAGTAGCTGAGGCTACAGGCGTGTATTACCACACTCAGCTATTTTTAAAATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTAATTCATCCACCTTGACCTCTTAAAGTGCTGGGATGAGGTGTGA... | TTTTATTATAGCTATCCTATGGGTGTGTCCTTTTGTTTTTGGCATTTCTTTTTTTTGATACAGGGTCTCACTCTGTTACCCAGGCTAGGGTGCAATGGCACAATCATAGCTCACTGCAGCCTCTACCTCCCAGGCTCAAGTGATCCTCCTACCACAGCCTTCTGAGTAGCTGAGGCTACAGGCGTGTATTACCACACTCAGCTATTTTTAAAATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTAATTCATCCACCTTGACCTCTTAAAGTGCTGGGATGAGGTGTGA... | pathogenic | 157,931 |
Benign or pathogenic: chromosome 10, position 17088245, gene CUBN (cubilin) variant? Disease(s) if pathogenic? | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_1', 'Proteinuria,_chronic_benign'] | CTCATGATCTGACCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGTGACTGGATTTCAATTCCAAGGCTGGACATATAGTTAGAATTTTTGTCATGATGTTACTAATCAAAGATCTTTCCCTTTTGATTTTTTTCATTATAAATTCTTAGTGATCTAGAAGAAAATGAATATAAGCAAAGAAAACAGAAGAAGGAACACCATTGATGCCAACTGATTCATAACTTGGTCCAGGTTTTCAGAAGGGTCAGAGGTAGAGAGGAAGTGCCATCAGATTAGACACAACAGAAAGACAGGT... | CTCATGATCTGACCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTGTGACTGGATTTCAATTCCAAGGCTGGACATATAGTTAGAATTTTTGTCATGATGTTACTAATCAAAGATCTTTCCCTTTTGATTTTTTTCATTATAAATTCTTAGTGATCTAGAAGAAAATGAATATAAGCAAAGAAAACAGAAGAAGGAACACCATTGATGCCAACTGATTCATAACTTGGTCCAGGTTTTCAGAAGGGTCAGAGGTAGAGAGGAAGTGCCATCAGATTAGACACAACAGAAAGACAGGT... | pathogenic | 157,945 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 17122761, gene CUBN (cubilin). What disease(s) is it linked to if pathogenic? | benign | TTGTTTTGTTTTTCATTTTGCAGGGGGAAGAAATAACGTGCTGAAAACAGCAACAGCCTTTATCTTGGTCTATGGATCTCATCACAGTTTGCCCATACTTGTCGCTCTATTGGCCCACAAGACTCCAAAAGACAGTGATGATAAAGGAAGACTAGGAGTGAAATCTAATCTCTGTAACATTCCTAGATATCAGGAAGGTCAGAAAGCAGAAGTTCTAGGAGCCTGGACATTTGCCACCAATGCCTCTATGTAGCAATCCTCCTTGATAAATGCCCATAAACAGAAATCAGGAGATAATGGGTTCACGGAAATGAGAGACT... | TTGTTTTGTTTTTCATTTTGCAGGGGGAAGAAATAACGTGCTGAAAACAGCAACAGCCTTTATCTTGGTCTATGGATCTCATCACAGTTTGCCCATACTTGTCGCTCTATTGGCCCACAAGACTCCAAAAGACAGTGATGATAAAGGAAGACTAGGAGTGAAATCTAATCTCTGTAACATTCCTAGATATCAGGAAGGTCAGAAAGCAGAAGTTCTAGGAGCCTGGACATTTGCCACCAATGCCTCTATGTAGCAATCCTCCTTGATAAATGCCCATAAACAGAAATCAGGAGATAATGGGTTCACGGAAATGAGAGACT... | benign | 157,980 |
Considering the genetic mutation at chromosome 10, position 17604049, impacting HACD1 (3-hydroxyacyl-CoA dehydratase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GACAGGAGGCTCTAAAGGCTGTCAAGAAGGTCAGAAGGGTTGACATAGGAAATGTTCCTGTCATGGGTTTAATTTTTTTTTTTTTTTGAGATGGAGCCTCACTCTGTCACCCAAACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATGGCAGGCGCCCGCCACCACATCTGGCTGATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCACGTTAGCCAGGCTGGTCGCGAACTCCTGACCCTCAGGTGGTTCACCCACC... | GACAGGAGGCTCTAAAGGCTGTCAAGAAGGTCAGAAGGGTTGACATAGGAAATGTTCCTGTCATGGGTTTAATTTTTTTTTTTTTTTGAGATGGAGCCTCACTCTGTCACCCAAACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATGGCAGGCGCCCGCCACCACATCTGGCTGATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCACGTTAGCCAGGCTGGTCGCGAACTCCTGACCCTCAGGTGGTTCACCCACC... | benign | 158,031 |
A genetic variant on chromosome 10, position 18150879, affects the gene CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CAAAAAACAAAAATTAGCCAAGCACGGCAATGTGTGCCTGTAGTTCCAGTTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGAGGGTGTGGGGTGTAGTCAAGGCTGCAGTGAGCCATGATCATATCACTGCACTCCAGCCTGGGTGACAGCACAAGACACTGTCTCAAAAAAAAAAAAAAAAATGGGATGAGATTATATTTTGTCTTTGTTCTCAAAGATAATTCATGTTCCTCATGAGGATAAACGGTGAATTTAACAAAGATTGTCGCTACACCCCCAAAGAAACAGGCCTTAAAAATACTTTCTAGGTA... | CAAAAAACAAAAATTAGCCAAGCACGGCAATGTGTGCCTGTAGTTCCAGTTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGAGGGTGTGGGGTGTAGTCAAGGCTGCAGTGAGCCATGATCATATCACTGCACTCCAGCCTGGGTGACAGCACAAGACACTGTCTCAAAAAAAAAAAAAAAAATGGGATGAGATTATATTTTGTCTTTGTTCTCAAAGATAATTCATGTTCCTCATGAGGATAAACGGTGAATTTAACAAAGATTGTCGCTACACCCCCAAAGAAACAGGCCTTAAAAATACTTTCTAGGTA... | benign | 158,049 |
Does the variant impacting CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) on chromosome 10, position 18536208, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAGGTAAGTAGGACTGCTACTGTTTGCTCTATAATCAAACTTTCCTAAAATGTATTTTATGTTCTGCTTTCTATAATTAGGCTATTGTAATAGCCTTTATGATGTATAGAGAATTTGAGGAGACATGATAGTCAAGAATTTTTAAATTGATATAGTTTCATGGCTTAGAACAGCTGTTCTCAAAGTGTGGTCCATGGATCCCTGGAGAGTGTTGAGACACTTTTAGAGGGTCCATTTAGTCAAAACTACTTCCAT... | ATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAGGTAAGTAGGACTGCTACTGTTTGCTCTATAATCAAACTTTCCTAAAATGTATTTTATGTTCTGCTTTCTATAATTAGGCTATTGTAATAGCCTTTATGATGTATAGAGAATTTGAGGAGACATGATAGTCAAGAATTTTTAAATTGATATAGTTTCATGGCTTAGAACAGCTGTTCTCAAAGTGTGGTCCATGGATCCCTGGAGAGTGTTGAGACACTTTTAGAGGGTCCATTTAGTCAAAACTACTTCCAT... | benign | 158,150 |
A mutation at chromosome position 18538377 on chromosome 10 in gene CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCTCACTGCAGCCCTGAACTCCCGGGCTCAAGTGATCCTATTGCTTCAGCCTTCCAAGCAGCTGAGACTATAGGTGCATGCCACCATGATCGGCTAACTTTTTTTTTTCCCCCTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTAGAACTCCTGGCCTGAAGTGATCCTCCTGCCTTGGTCTTCCAAAGTGCTAGGATTACAAGCATGAGCTGCCATGCCTGGCCAGAACTGGCATTATATTTTGAAAAAAACAGTCAAACACCTGTCAGGGAAGAGAATCCTCATCACTTACAGTGGTATTCATTCCAAAG... | GCTCACTGCAGCCCTGAACTCCCGGGCTCAAGTGATCCTATTGCTTCAGCCTTCCAAGCAGCTGAGACTATAGGTGCATGCCACCATGATCGGCTAACTTTTTTTTTTCCCCCTGTAGAGACGGGGTCTTGCTATGTTGCCCAGGCTGGTCTAGAACTCCTGGCCTGAAGTGATCCTCCTGCCTTGGTCTTCCAAAGTGCTAGGATTACAAGCATGAGCTGCCATGCCTGGCCAGAACTGGCATTATATTTTGAAAAAAACAGTCAAACACCTGTCAGGGAAGAGAATCCTCATCACTTACAGTGGTATTCATTCCAAAG... | benign | 158,160 |
Variant in CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2), chromosome 10, position 18539740—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACTTGAACCTGGGAGGCCAAGGTTGCACTGAACCAAGATCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAACAGGCTTCTTCCTATTCTATTCTATTCTGTTCAAATATATATACATCTCTTTTCTACCATAGTATCTATGCCTTTTTCATTGCTGATTGATAGACAACTTTTCTGGGTTGCCATGTCCTTAACAACTGTTACCTTTCTGGCCATTATTTATTAGTTAAGCATTCAGTGCCCTCAACAATGATTTGAGGTA... | ACTTGAACCTGGGAGGCCAAGGTTGCACTGAACCAAGATCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAACAGGCTTCTTCCTATTCTATTCTATTCTGTTCAAATATATATACATCTCTTTTCTACCATAGTATCTATGCCTTTTTCATTGCTGATTGATAGACAACTTTTCTGGGTTGCCATGTCCTTAACAACTGTTACCTTTCTGGCCATTATTTATTAGTTAAGCATTCAGTGCCCTCAACAATGATTTGAGGTA... | benign | 158,199 |
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