question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Determine if the mutation at chromosome 11, position 68780711 in gene CPT1A (carnitine palmitoyltransferase 1A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | ACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC... | ACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC... | pathogenic | 179,958 |
Located at chromosome 11 position 68781794, the variant affecting gene CPT1A—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCG... | TGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCG... | pathogenic | 179,966 |
Located at chromosome 11 position 68799366, the variant affecting gene CPT1A (carnitine palmitoyltransferase 1A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTTAAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGC... | GTTTAAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGC... | benign | 180,005 |
Is chromosome 11, position 68799370, gene CPT1A (carnitine palmitoyltransferase 1A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTC... | AAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTC... | benign | 180,006 |
The mutation impacting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on chromosome 11 at position 68906222: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | CGTCCCCTGCTTGGCCACCTCCCGAGTTGTCAGTCTCATCACTTCCTGGGCAGCGCGTTCCGTTTGGGGACCCTTAAGAAGCACTTTGATTTCCCGACCCGAGACCCCCCACTAAGCTTACACTCCTGGGCCCTGGCCCCGACCCCAGTTCCACCCGCAGCGAGTTAGCAGCCCTTTCCCTTATTCATTCAGTAAACATGGTTTGCGCCCATTCTCAGTCAGGCCCCGGCAGCATGAGTCAGGTGCACTGGCTGCCCCCGATCCGGCCAGCGGCGGGCTGGGCATAAGCAGAGAGTCCCTTCCCCTCCAGTGCGTCCAGG... | CGTCCCCTGCTTGGCCACCTCCCGAGTTGTCAGTCTCATCACTTCCTGGGCAGCGCGTTCCGTTTGGGGACCCTTAAGAAGCACTTTGATTTCCCGACCCGAGACCCCCCACTAAGCTTACACTCCTGGGCCCTGGCCCCGACCCCAGTTCCACCCGCAGCGAGTTAGCAGCCCTTTCCCTTATTCATTCAGTAAACATGGTTTGCGCCCATTCTCAGTCAGGCCCCGGCAGCATGAGTCAGGTGCACTGGCTGCCCCCGATCCGGCCAGCGGCGGGCTGGGCATAAGCAGAGAGTCCCTTCCCCTCCAGTGCGTCCAGG... | pathogenic | 180,047 |
Variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), chromosome 11, position 68908180—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | GCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTAACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAA... | GCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTAACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAA... | pathogenic | 180,053 |
Is the genetic change at chromosome 11, position 68908294, within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'IGHMBP2-related_disorder'] | CGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTAC... | CGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTAC... | pathogenic | 180,059 |
Considering the variant on chromosome 11, location 68911565, involving gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | ATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTT... | ATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTT... | pathogenic | 180,071 |
Located at chromosome 11 position 68917800, the variant affecting gene IGHMBP2 (immunoglobulin mu DNA binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'IGHMBP2-related_disorder', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant'] | GGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAG... | GGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAG... | pathogenic | 180,082 |
Does the chromosome 11 mutation at position 68933300 within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | GGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTG... | GGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTG... | pathogenic | 180,104 |
Does the genetic variant at chromosome 11, position 68933375, impacting gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_1'] | CCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAG... | CCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAG... | pathogenic | 180,107 |
Is the variant located on chromosome 11 at position 68933459, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | AGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGA... | AGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGA... | pathogenic | 180,109 |
Variant in gene IGHMBP2, located at chromosome 11 position 68934445: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACC... | CGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACC... | benign | 180,126 |
A genetic alteration at chromosome 11, position 68936833, in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Distal_spinal_muscular_atrophy'] | CACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGAC... | CACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGAC... | pathogenic | 180,167 |
Assess the variant on chromosome 11, position 68936904, impacting IGHMBP2 (immunoglobulin mu DNA binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Inborn_genetic_diseases'] | GCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCT... | GCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCT... | pathogenic | 180,172 |
The chromosome 11, position 68937019 genetic variant in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | AATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGG... | AATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGG... | pathogenic | 180,178 |
Variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), chromosome 11, position 68937074—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant'] | GGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGA... | GGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGA... | pathogenic | 180,182 |
Evaluate if the mutation on chromosome 11 at position 68937076 in IGHMBP2 (immunoglobulin mu DNA binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | TGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAA... | TGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAA... | pathogenic | 180,183 |
A mutation at chromosome position 68939544 on chromosome 11 in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | TCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGC... | TCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGC... | pathogenic | 180,200 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 68939657, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Distal_spinal_muscular_atrophy', 'Inborn_genetic_diseases'] | GTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGG... | GTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGG... | pathogenic | 180,206 |
Mutation at chromosome 11, position 70473241, within SHANK2 (SH3 and multiple ankyrin repeat domains 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autism,_susceptibility_to,_17'] | AGAAAGATTTTAAATTGCTAAATTTTATGTGTTCATTCTAGAGCTGTTCCAGACCTAATCAAGAAAAAAAGGAAAAAAAAAAAACAAAACCATGTTTTATAATTAGAGATGGGCTGAGCTAGTTCTGAAATAATAATAAAACCAAAAACCTGACATTCGAGTATCCTCCAAATGGGGGAGAATGTGCTGGAAGCCTGACTGTGTGTTTTGCGGCCCATGTGCATCTGGTGACCTCTTTTGGAAATTCGAGGTATTGTTATGGGGTGGAGGGACTCCGGGGAAAGAAAGGGGCGGGGCTCAAGAAAGCCTTGCCAGAGAGG... | AGAAAGATTTTAAATTGCTAAATTTTATGTGTTCATTCTAGAGCTGTTCCAGACCTAATCAAGAAAAAAAGGAAAAAAAAAAAACAAAACCATGTTTTATAATTAGAGATGGGCTGAGCTAGTTCTGAAATAATAATAAAACCAAAAACCTGACATTCGAGTATCCTCCAAATGGGGGAGAATGTGCTGGAAGCCTGACTGTGTGTTTTGCGGCCCATGTGCATCTGGTGACCTCTTTTGGAAATTCGAGGTATTGTTATGGGGTGGAGGGACTCCGGGGAAAGAAAGGGGCGGGGCTCAAGAAAGCCTTGCCAGAGAGG... | pathogenic | 180,277 |
Evaluate this variant at chromosome 11, position 70486126, gene SHANK2 (SH3 and multiple ankyrin repeat domains 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GAGAGACTGAAGATGCTGCCACCTGGGGAACAGCAAAATGGTGCACACCACAGGGAAGGAGAACCAAGAACCATAAGCCATCACGGGAGCCAATGGGGCTCCCCAAAGCCACAGACTGCTGAGCCCTGATACGGTTTGGATCTGTGTTCCCACCCAAATCTCATATGTGAAATTGTAGTCTCCAGTGTTGGAGGAGGTGCCTGGTGGGAGGTGATCAGATCATGGTGGGGGAGTTCTCATGAACGGTTTAGCACCATCTTCCCTGGCTACTGTACATAGTGAGCTCTCATGAGATCAGGTTGTTTAAATAGACTGTGGTA... | GAGAGACTGAAGATGCTGCCACCTGGGGAACAGCAAAATGGTGCACACCACAGGGAAGGAGAACCAAGAACCATAAGCCATCACGGGAGCCAATGGGGCTCCCCAAAGCCACAGACTGCTGAGCCCTGATACGGTTTGGATCTGTGTTCCCACCCAAATCTCATATGTGAAATTGTAGTCTCCAGTGTTGGAGGAGGTGCCTGGTGGGAGGTGATCAGATCATGGTGGGGGAGTTCTCATGAACGGTTTAGCACCATCTTCCCTGGCTACTGTACATAGTGAGCTCTCATGAGATCAGGTTGTTTAAATAGACTGTGGTA... | benign | 180,286 |
Assess the variant on chromosome 11, position 71094679, impacting SHANK2 (SH3 and multiple ankyrin repeat domains 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autism,_susceptibility_to,_17', 'Neurodevelopmental_disorder'] | ACCCCTTTTGCAGAGTGAGGTGATCCAGAAAGCAGCACCAGGACCACCCTCCCCCAGGTCAAGGCAACCCACACCCTGAGTACCCAGTGCTTCTCCTGGGCTCCCCAGAATTAAGAAGGGTATAACCTGGCCGGGTGTGGTGGCTGACGCCTATGATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACCCGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATGAAAAATACAAAAAAAATAGCCAGCGTGGTGGCAGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGG... | ACCCCTTTTGCAGAGTGAGGTGATCCAGAAAGCAGCACCAGGACCACCCTCCCCCAGGTCAAGGCAACCCACACCCTGAGTACCCAGTGCTTCTCCTGGGCTCCCCAGAATTAAGAAGGGTATAACCTGGCCGGGTGTGGTGGCTGACGCCTATGATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACCCGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATGAAAAATACAAAAAAAATAGCCAGCGTGGTGGCAGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGG... | pathogenic | 180,300 |
Benign or pathogenic: chromosome 11, position 71435202, gene DHCR7 (7-dehydrocholesterol reductase) variant? Disease(s) if pathogenic? | benign | TCCTTCATTCTGGAAGGGGGCAAAGGCCAGGCCAGCTTCCCAGGGATCAGGCACTGTGGCTTCACTGGGAACAGAATGCTCTCTGTACATGGAGAATGGTAGAGGCTGGCACTGTCTAATCTGAGCTCCTGGATCACCCTGTTCTCGCCCAGAGAGAAGCTGGCTCCATCTGGGGATGAGTGAGGGCAGACGTGTCTGGTGGGACAGAGCCTGGGCCACAGCCTTGCACCTGCAGAACCCATTGTACAAACACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCT... | TCCTTCATTCTGGAAGGGGGCAAAGGCCAGGCCAGCTTCCCAGGGATCAGGCACTGTGGCTTCACTGGGAACAGAATGCTCTCTGTACATGGAGAATGGTAGAGGCTGGCACTGTCTAATCTGAGCTCCTGGATCACCCTGTTCTCGCCCAGAGAGAAGCTGGCTCCATCTGGGGATGAGTGAGGGCAGACGTGTCTGGTGGGACAGAGCCTGGGCCACAGCCTTGCACCTGCAGAACCCATTGTACAAACACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCT... | benign | 180,311 |
Variant at chromosome position 71435453, chromosome 11, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Smith-Lemli-Opitz_syndrome'] | ACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAA... | ACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAA... | pathogenic | 180,316 |
Clinical significance of chromosome 11, position 71435454, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | CACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAAC... | CACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAAC... | pathogenic | 180,317 |
Gene DHCR7 (7-dehydrocholesterol reductase) variant at chromosome 11, position 71435725—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTC... | GGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTC... | pathogenic | 180,347 |
Variant chromosome 11, position 71435736, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Disease(s)? | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | TCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAA... | TCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAA... | pathogenic | 180,348 |
Is the genetic change at chromosome 11, position 71435745, within gene DHCR7 (7-dehydrocholesterol reductase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | ACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCAC... | ACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCAC... | pathogenic | 180,349 |
Clinical significance of chromosome 11, position 71435798, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | AAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACT... | AAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACT... | pathogenic | 180,353 |
A mutation at chromosome position 71435807 on chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCT... | GGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCT... | pathogenic | 180,354 |
Determine whether the variant at chromosome 11, position 71437822, in gene DHCR7 (7-dehydrocholesterol reductase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | CAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACA... | CAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACA... | pathogenic | 180,366 |
Is the genetic variant on chromosome 11, position 71437900, gene DHCR7 (7-dehydrocholesterol reductase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGT... | GGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGT... | pathogenic | 180,374 |
Benign or pathogenic: chromosome 11, position 71438906, gene DHCR7 (7-dehydrocholesterol reductase) variant? Disease(s) if pathogenic? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | ATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTC... | ATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTC... | pathogenic | 180,388 |
Variant in gene DHCR7 (7-dehydrocholesterol reductase), located at chromosome 11 position 71442257: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | GAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGG... | GAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGG... | pathogenic | 180,433 |
Variant chromosome 11, position 71442319, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Disease(s)? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | TTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTA... | TTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTA... | pathogenic | 180,437 |
Gene DHCR7 (7-dehydrocholesterol reductase) variant at chromosome position 71444848 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATC... | GTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATC... | pathogenic | 180,466 |
Variant chromosome 11, position 72108662, gene ANAPC15: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_63', 'Inborn_genetic_diseases'] | ATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAAC... | ATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAAC... | pathogenic | 180,527 |
For chromosome 11, position 72225181, gene INPPL1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GACCCGGGCTCCGTCAACAGGTTCAACGTAGCAAAGTGAAAGTTCTCTCCCAGGTTAAAGGGATTCTCCCACGGCGGCCCAGGAGATGGTGGCGGCGGGCGCCCGGCTGGAGGCCTGCGCCTTTAAGGAGCCAGGGGGCGGAGGGGCGGGGCAGGAAGACGACTCCCCGGAGACGCCGCCACCGGCTAGGTCTTTTTTTGGGAGGGGGCGGGCCAGACCCTTTTATGGGCTCCGCCCCCTTTGCGGCTGCCGCGTCCCCCTTCCGCCCTCGGCTGGAGGGGAGGAAGCTAGGGGGGCGTTGCAGCGGACCCCGTCTGGGA... | GACCCGGGCTCCGTCAACAGGTTCAACGTAGCAAAGTGAAAGTTCTCTCCCAGGTTAAAGGGATTCTCCCACGGCGGCCCAGGAGATGGTGGCGGCGGGCGCCCGGCTGGAGGCCTGCGCCTTTAAGGAGCCAGGGGGCGGAGGGGCGGGGCAGGAAGACGACTCCCCGGAGACGCCGCCACCGGCTAGGTCTTTTTTTGGGAGGGGGCGGGCCAGACCCTTTTATGGGCTCCGCCCCCTTTGCGGCTGCCGCGTCCCCCTTCCGCCCTCGGCTGGAGGGGAGGAAGCTAGGGGGGCGTTGCAGCGGACCCCGTCTGGGA... | benign | 180,569 |
Gene CLPB (ClpB family mitochondrial disaggregase) variant at chromosome position 72294455 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAA... | GGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAA... | benign | 180,622 |
Is the genetic variant on chromosome 11, position 72295503, gene CLPB (ClpB family mitochondrial disaggregase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGA... | CGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGA... | benign | 180,626 |
Variant at chromosome position 72373006, chromosome 11, gene CLPB (ClpB family mitochondrial disaggregase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['3-methylglutaconic_aciduria,_type_VIIB'] | TTATTGCTCATTACTCTCTAAGATGAATCTTCTGCTGTGTGCCTGCTTCACCCTAACATGTTCGTCTATCAGCGTGAAACATAATTTTTCTGTTTCTCATATCTGAGTGGTTTTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTTACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACAACCCACTACACCTGGCTAATTAAAAAATATATATATTGGGCAGGGCGTGGTGGCTCATTACTAATC... | TTATTGCTCATTACTCTCTAAGATGAATCTTCTGCTGTGTGCCTGCTTCACCCTAACATGTTCGTCTATCAGCGTGAAACATAATTTTTCTGTTTCTCATATCTGAGTGGTTTTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTTACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACAACCCACTACACCTGGCTAATTAAAAAATATATATATTGGGCAGGGCGTGGTGGCTCATTACTAATC... | pathogenic | 180,661 |
Evaluate the clinical significance of the mutation at chromosome 11, position 74042223 in gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGTGAACTGCTCATGTGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAAATAATGCCTGATGATGGGAGGTGGAACAGTTTCATCTGGAAACCACCCCCCACCCCCAACCCCACCCTTGTGGAAGAAAAATGGTCTTCCACAAAACCAGTGTCTGGTGCCAAAAAGGTTGGGGCTGCTGGTCTATAGCACTATTGATCAATTTTTAACTTGTCTCATTAACCAAAAAGATTTTGTTGATGTTTCTTTTCTGACTTTGCATTATGAATCAAAGAATAGGTTAGTTTTTTTTTTTTCAAATATAAAGTCTTTTGGCC... | TTGTGAACTGCTCATGTGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAAATAATGCCTGATGATGGGAGGTGGAACAGTTTCATCTGGAAACCACCCCCCACCCCCAACCCCACCCTTGTGGAAGAAAAATGGTCTTCCACAAAACCAGTGTCTGGTGCCAAAAAGGTTGGGGCTGCTGGTCTATAGCACTATTGATCAATTTTTAACTTGTCTCATTAACCAAAAAGATTTTGTTGATGTTTCTTTTCTGACTTTGCATTATGAATCAAAGAATAGGTTAGTTTTTTTTTTTTCAAATATAAAGTCTTTTGGCC... | benign | 180,791 |
Clinical significance of chromosome 11, position 74098016, gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Orofaciodigital_syndrome_type_14'] | GTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATT... | GTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATT... | pathogenic | 180,834 |
Clinically, how would you classify the variant at chromosome 11, position 74098243, gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Orofaciodigital_syndrome_type_14'] | CGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAG... | CGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAG... | pathogenic | 180,837 |
Variant in gene C2CD3 (C2 domain containing 3 centriole elongation regulator), located at chromosome 11 position 74133518: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Orofaciodigital_syndrome_type_14'] | TTTTTATATGTTGCTGGGTTCGGTTTGCAAGTATTTTCTGGAGTATGTTGTGTTGTTACTTCCCTGTAATAGAAATCTAAACTTCAGATCAAACTAATTGGAGGTTTTGTTTTTCTTTCTTTTTTTTTTTGAGATGGAGTCTTACTCCTTCTATCATCCAGGCCAGAGTGCAGTAGCATGTTCTCGGCTCATTGCAACCTCTGCCTCCAGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCACCACCACGCCTGGCTCATTTTTGTACTGTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTC... | TTTTTATATGTTGCTGGGTTCGGTTTGCAAGTATTTTCTGGAGTATGTTGTGTTGTTACTTCCCTGTAATAGAAATCTAAACTTCAGATCAAACTAATTGGAGGTTTTGTTTTTCTTTCTTTTTTTTTTTGAGATGGAGTCTTACTCCTTCTATCATCCAGGCCAGAGTGCAGTAGCATGTTCTCGGCTCATTGCAACCTCTGCCTCCAGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCACCACCACGCCTGGCTCATTTTTGTACTGTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTC... | pathogenic | 180,859 |
Does the chromosome 11 mutation at position 75566995 within gene SERPINH1 (serpin family H member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTG... | GGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTG... | benign | 180,936 |
Determine whether the variant at chromosome 11, position 77142737, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGA... | AGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGA... | benign | 180,997 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 77142788, gene MYO7A (myosin VIIA). What disease(s) is it linked to if pathogenic? | pathogenic; ['MYO7A-related_disorder'] | TTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATT... | TTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATT... | pathogenic | 181,004 |
Is chromosome 11, position 77147799, gene MYO7A (myosin VIIA) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Usher_syndrome_type_2'] | GGCCCAGAAGTGCCGTGGAGTATCAGGGAAACTGGGGTGGGGGGCTCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGAT... | GGCCCAGAAGTGCCGTGGAGTATCAGGGAAACTGGGGTGGGGGGCTCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGAT... | pathogenic | 181,010 |
Regarding the variant at chromosome 11 and position 77147844, affecting gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2'] | TCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAA... | TCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAA... | pathogenic | 181,011 |
Gene mutation in MYO7A (myosin VIIA) at chromosome 11, position 77147888—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'MYO7A-related_disorder', 'Usher_syndrome_type_1'] | TGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAA... | TGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAA... | pathogenic | 181,012 |
Is chromosome 11, position 77155942, gene MYO7A (myosin VIIA) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | GCATGGCATCAGCCTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAA... | GCATGGCATCAGCCTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAA... | pathogenic | 181,021 |
Variant at chromosome 11, position 77155955, gene MYO7A (myosin VIIA): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTAC... | CTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTAC... | pathogenic | 181,024 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 77156011, gene MYO7A (myosin VIIA). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'MYO7A-related_disorder', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1'] | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCT... | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCT... | pathogenic | 181,026 |
Mutation at chromosome 11, position 77156011, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy'] | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCT... | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCT... | pathogenic | 181,027 |
Gene MYO7A (myosin VIIA) variant at chromosome position 77156683 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTG... | pathogenic | 181,040 |
Classify the chromosome 11 variant at position 77156766 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Rare_genetic_deafness'] | TGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGG... | TGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGG... | pathogenic | 181,042 |
Mutation at chromosome 11, position 77156872, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGC... | CTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGC... | pathogenic | 181,044 |
Does the chromosome 11 mutation at position 77157263 within gene MYO7A (myosin VIIA) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAG... | ACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAG... | benign | 181,060 |
Variant chromosome 11, position 77157387, gene MYO7A (myosin VIIA): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGG... | AGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGG... | pathogenic | 181,065 |
Chromosome 11, position 77162125, gene MYO7A (myosin VIIA): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | CCAGTGCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCT... | CCAGTGCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCT... | pathogenic | 181,096 |
Is the genetic mutation found on chromosome 11 at position 77162130, within the gene MYO7A (myosin VIIA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTG... | GCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTG... | pathogenic | 181,097 |
Chromosome 11, position 77162860, gene MYO7A (myosin VIIA): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss', 'Retinal_dystrophy', 'Usher_syndrome_type_1'] | GGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTC... | GGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTC... | pathogenic | 181,106 |
Evaluate this variant at chromosome 11, position 77162914, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Inborn_genetic_diseases', 'Retinal_dystrophy', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | CTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCC... | CTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCC... | pathogenic | 181,110 |
Evaluate the clinical significance of the mutation at chromosome 11, position 77166102 in gene MYO7A (myosin VIIA): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Retinal_dystrophy'] | AGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAA... | AGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAA... | pathogenic | 181,118 |
Does the chromosome 11 mutation at position 77172741 within gene MYO7A (myosin VIIA) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome', 'Usher_syndrome_type_1'] | TTCACTAACTCCCCAGTCCCAGGGGAGGTTGGCCTGGAATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATC... | TTCACTAACTCCCCAGTCCCAGGGGAGGTTGGCCTGGAATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATC... | pathogenic | 181,123 |
Does the variant impacting MYO7A (myosin VIIA) on chromosome 11, position 77172778, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGG... | AATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGG... | pathogenic | 181,127 |
Gene mutation in MYO7A (myosin VIIA) at chromosome 11, position 77174772—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness'] | CATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTAT... | CATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTAT... | pathogenic | 181,133 |
Is the genetic mutation found on chromosome 11 at position 77175447, within the gene MYO7A (myosin VIIA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rare_genetic_deafness'] | TTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAA... | TTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAA... | pathogenic | 181,153 |
The mutation in gene MYO7A (myosin VIIA) at chromosome 11, position 77175465—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGAC... | TGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGAC... | pathogenic | 181,155 |
Determine whether the variant at chromosome 11, position 77177612, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Usher_syndrome_type_1'] | AGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGC... | AGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGC... | pathogenic | 181,159 |
Clinically, how would you classify the variant at chromosome 11, position 77179038, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGA... | TGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGA... | pathogenic | 181,161 |
Regarding the variant found on chromosome 11 at position 77179068 in gene MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTG... | CCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTG... | pathogenic | 181,163 |
Evaluate this variant at chromosome 11, position 77181434, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2'] | GAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGG... | GAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGG... | pathogenic | 181,182 |
Gene MYO7A (myosin VIIA) variant at chromosome 11, position 77181450—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Usher_syndrome_type_1'] | TGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTG... | TGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTG... | pathogenic | 181,184 |
The mutation impacting MYO7A (myosin VIIA) on chromosome 11 at position 77181522: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['MYO7A-related_disorder'] | AGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCA... | AGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCA... | pathogenic | 181,186 |
Variant in MYO7A (myosin VIIA), chromosome 11, position 77184725—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAA... | TCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAA... | benign | 181,216 |
Clinical significance of chromosome 11, position 77189371, gene MYO7A (myosin VIIA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness'] | GTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGA... | GTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGA... | pathogenic | 181,220 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 77189380, gene MYO7A (myosin VIIA): what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness'] | GTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGG... | GTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGG... | pathogenic | 181,221 |
A mutation at chromosome position 77189425 on chromosome 11 in gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome'] | CTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTG... | CTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTG... | pathogenic | 181,225 |
Assess the variant on chromosome 11, position 77190083, impacting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | TTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAA... | TTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAA... | pathogenic | 181,231 |
Clinical significance of chromosome 11, position 77190115, gene MYO7A (myosin VIIA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1'] | CTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTG... | CTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTG... | pathogenic | 181,235 |
Variant at chromosome position 77190708, chromosome 11, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | CACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGC... | CACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGC... | pathogenic | 181,239 |
Determine if the mutation at chromosome 11, position 77190773 in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGG... | GTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGG... | pathogenic | 181,240 |
Does the variant impacting MYO7A (myosin VIIA) on chromosome 11, position 77190817, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Usher_syndrome_type_1'] | TTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCC... | TTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCC... | pathogenic | 181,244 |
Benign or pathogenic: chromosome 11, position 77190879, gene MYO7A (myosin VIIA) variant? Disease(s) if pathogenic? | benign | CCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGAT... | CCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGAT... | benign | 181,247 |
Is the variant located on chromosome 11 at position 77192149, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAG... | GGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAG... | pathogenic | 181,261 |
Gene MYO7A (myosin VIIA) variant at chromosome 11, position 77192190—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Rare_genetic_deafness'] | TCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGT... | TCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGT... | pathogenic | 181,262 |
Is the genetic variant on chromosome 11, position 77192232, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAA... | GTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAA... | pathogenic | 181,263 |
Is the genetic variant on chromosome 11, position 77194384, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome', 'Usher_syndrome_type_1'] | CGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTG... | CGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTG... | pathogenic | 181,270 |
Mutation found at chromosome 11 position 77194424, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | AGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTT... | AGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTT... | pathogenic | 181,272 |
Classify the chromosome 11 variant at position 77194451 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTA... | GGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTA... | pathogenic | 181,274 |
Is the genetic change at chromosome 11, position 77194495, within gene MYO7A (myosin VIIA) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAG... | CTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAG... | pathogenic | 181,279 |
Classify the chromosome 11 variant at position 77198552 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCACGTTCAAAAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCA... | TTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCACGTTCAAAAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCA... | pathogenic | 181,299 |
The chromosome 11, position 77198597 genetic variant in gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | AAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTA... | AAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTA... | pathogenic | 181,301 |
Considering the variant on chromosome 11, location 77198607, involving gene MYO7A (myosin VIIA), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Rare_genetic_deafness'] | CTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGG... | CTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGG... | pathogenic | 181,302 |
Mutation at chromosome 11, position 77199607, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'MYO7A-related_disorder', 'Usher_syndrome_type_1'] | TTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTG... | TTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTG... | pathogenic | 181,307 |
Assess the variant on chromosome 11, position 77199803, impacting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'Retinal_dystrophy', 'Usher_syndrome', 'Usher_syndrome_type_1'] | AATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAA... | AATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAA... | pathogenic | 181,316 |
Determine whether the variant at chromosome 11, position 77201511, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | ATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTA... | ATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTA... | pathogenic | 181,321 |
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