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 |
|---|---|---|---|---|---|
A genetic variant on chromosome 6, position 69700747, affects the gene LMBRD1 (LMBR1 domain containing 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ACCAAAATGTTCTTTGGGAGCCATATTATTAAAATTCGTTAAAACGTTATTTTAGAGGAAGTATTTTGAGTTTTAATAAAGTACTAAGGTAAAGCTCAGTAGCTTAGCACCATGGGACCCATTTAAGAAACTACTGTAATGAAATTCTGTGTGCTGTTTCAAAAAAACAACAGTATGAAACAAATATAAATATGCTAAAAATAGAAATAAAAAACCAGTTTTAGCAATATTAAATATAATCTGATGAGCTAATATCTTATGCTAACCATCACAATTAAAATTTCATTTTAAATATCACTATCTTTAAAATATCAAAATAA... | ACCAAAATGTTCTTTGGGAGCCATATTATTAAAATTCGTTAAAACGTTATTTTAGAGGAAGTATTTTGAGTTTTAATAAAGTACTAAGGTAAAGCTCAGTAGCTTAGCACCATGGGACCCATTTAAGAAACTACTGTAATGAAATTCTGTGTGCTGTTTCAAAAAAACAACAGTATGAAACAAATATAAATATGCTAAAAATAGAAATAAAAAACCAGTTTTAGCAATATTAAATATAATCTGATGAGCTAATATCTTATGCTAACCATCACAATTAAAATTTCATTTTAAATATCACTATCTTTAAAATATCAAAATAA... | benign | 109,991 |
The mutation impacting LMBRD1 (LMBR1 domain containing 1) on chromosome 6 at position 69700762: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblF'] | GGGAGCCATATTATTAAAATTCGTTAAAACGTTATTTTAGAGGAAGTATTTTGAGTTTTAATAAAGTACTAAGGTAAAGCTCAGTAGCTTAGCACCATGGGACCCATTTAAGAAACTACTGTAATGAAATTCTGTGTGCTGTTTCAAAAAAACAACAGTATGAAACAAATATAAATATGCTAAAAATAGAAATAAAAAACCAGTTTTAGCAATATTAAATATAATCTGATGAGCTAATATCTTATGCTAACCATCACAATTAAAATTTCATTTTAAATATCACTATCTTTAAAATATCAAAATAATCAAGTTTCAAATAT... | GGGAGCCATATTATTAAAATTCGTTAAAACGTTATTTTAGAGGAAGTATTTTGAGTTTTAATAAAGTACTAAGGTAAAGCTCAGTAGCTTAGCACCATGGGACCCATTTAAGAAACTACTGTAATGAAATTCTGTGTGCTGTTTCAAAAAAACAACAGTATGAAACAAATATAAATATGCTAAAAATAGAAATAAAAAACCAGTTTTAGCAATATTAAATATAATCTGATGAGCTAATATCTTATGCTAACCATCACAATTAAAATTTCATTTTAAATATCACTATCTTTAAAATATCAAAATAATCAAGTTTCAAATAT... | pathogenic | 109,992 |
Regarding the variant at chromosome 6 and position 69701469, affecting gene LMBRD1 (LMBR1 domain containing 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cobalamin_C_disease', 'Disorders_of_Intracellular_Cobalamin_Metabolism', 'Inborn_genetic_diseases', 'LMBRD1-related_disorder', 'Methylmalonic_aciduria_and_homocystinuria_type_cblF'] | TCATGGAGCTAACTGTGAACTACCTCTAGTTCTATCTAAAGATTAGAAGTATGAATTTAAACTACAAGTATCAGTAATATACTATGGTTTTATATAATTTTTTATAATACTGCATAAGAATAGACAATGTCATGTGTTTATAAACATCTATTTCTATGAAATACTCGTGACCTCCTTATACTTTGCTATAAAAATTAGTTTATGAAAAACTCTGATAATCTTACTAAAGAGCTTTTCACATTTATCTATACTAAAGGGAAATGAAAACACATGGTAACTGAAATATAAGGAACCAGGTAACTTGCTTCATTTCAATAGCA... | TCATGGAGCTAACTGTGAACTACCTCTAGTTCTATCTAAAGATTAGAAGTATGAATTTAAACTACAAGTATCAGTAATATACTATGGTTTTATATAATTTTTTATAATACTGCATAAGAATAGACAATGTCATGTGTTTATAAACATCTATTTCTATGAAATACTCGTGACCTCCTTATACTTTGCTATAAAAATTAGTTTATGAAAAACTCTGATAATCTTACTAAAGAGCTTTTCACATTTATCTATACTAAAGGGAAATGAAAACACATGGTAACTGAAATATAAGGAACCAGGTAACTTGCTTCATTTCAATAGCA... | pathogenic | 109,993 |
Variant at chromosome 6, position 69701898, gene LMBRD1 (LMBR1 domain containing 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_aciduria_and_homocystinuria_type_cblF'] | ATGACAATAAGATCATTCATAAATTTACATTTCCCAGGTTCTTTCACAGCCAGTAGTGGCCATGTGATAAAATATTAAACATGAAAAGGAAAGCAGAAGTCTGTTAGGGATTTCTGTAAAAGTCTTGTTTTATTGATATAATTGTTTACCCCTTTCTCCTAACTACCTTTTTCTTCACAGAATATGAACAGGATAAAAGGAACTGCAGCAGCCATACTACAATCATGACAGAGATACTCAAAGAATTACAGAGATATTGGATCTGACTTTTTGAGCTACTGAAGCAATACTAGATTCTTTTTTTCCATAGCAAGAAATCT... | ATGACAATAAGATCATTCATAAATTTACATTTCCCAGGTTCTTTCACAGCCAGTAGTGGCCATGTGATAAAATATTAAACATGAAAAGGAAAGCAGAAGTCTGTTAGGGATTTCTGTAAAAGTCTTGTTTTATTGATATAATTGTTTACCCCTTTCTCCTAACTACCTTTTTCTTCACAGAATATGAACAGGATAAAAGGAACTGCAGCAGCCATACTACAATCATGACAGAGATACTCAAAGAATTACAGAGATATTGGATCTGACTTTTTGAGCTACTGAAGCAATACTAGATTCTTTTTTTCCATAGCAAGAAATCT... | pathogenic | 109,997 |
Gene mutation in LMBRD1 (LMBR1 domain containing 1) at chromosome 6, position 69741834—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_aciduria_and_homocystinuria_type_cblF'] | TTACTACATATAAAGCATTTTTTTTAAAAAAGGTTATATAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGTTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTAAGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAACCCGGAAGGCAGGGGTTGCAGTGAGCCACGATCATGCCACTGCACTCTAGCCGGGGTGACAGAGCAAGACTCCGTCTC... | TTACTACATATAAAGCATTTTTTTTAAAAAAGGTTATATAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGTTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTAAGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAACCCGGAAGGCAGGGGTTGCAGTGAGCCACGATCATGCCACTGCACTCTAGCCGGGGTGACAGAGCAAGACTCCGTCTC... | pathogenic | 110,009 |
For chromosome 6, position 69752264, gene LMBRD1 (LMBR1 domain containing 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblF'] | GTCACATATGTTAACTCATTTAATTCTCATAATAACTCTAAGATAGGTTGTTCTCATCTTTAGACATAAGGAAGCTTAAGTCCAGAGAAGTTAATAATCTGTCCTAAGGCACATAGGTCATAAGTGATTAAATAAGTACTTAAGACCAGGAACTTGGGAATTTAAAAACCATGTTTTGCTTGGTGCTTATAATATACTCCAAAGGCTAAGAAAAGCAAATAAAGACAAAGCTGGACATTCTGAATACGAATAAAAAAGTTAATAATAATCTCATTTTAAATCGGTCAGAAATAACATTTGTCCTCTCAGACTAACGAAGT... | GTCACATATGTTAACTCATTTAATTCTCATAATAACTCTAAGATAGGTTGTTCTCATCTTTAGACATAAGGAAGCTTAAGTCCAGAGAAGTTAATAATCTGTCCTAAGGCACATAGGTCATAAGTGATTAAATAAGTACTTAAGACCAGGAACTTGGGAATTTAAAAACCATGTTTTGCTTGGTGCTTATAATATACTCCAAAGGCTAAGAAAAGCAAATAAAGACAAAGCTGGACATTCTGAATACGAATAAAAAAGTTAATAATAATCTCATTTTAAATCGGTCAGAAATAACATTTGTCCTCTCAGACTAACGAAGT... | pathogenic | 110,012 |
A genetic alteration at chromosome 6, position 70216654, in gene COL9A1 (collagen type IX alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTCAAAAATATCTCAGAGAGGATTTGAGATTTCTATTTTGCTAGAGAGACATGCTTGGTCAGATTCAACATTTACCAACTCTCTTTCATGGAGGGAATTTGCTGGGCTCTTTTCCTTGCAATTTCTAAGCCAAGTGTCTTCTGCTTCTGTAAACTACTTCACTTAACTGAAATTTATAACGAATTCTTCCTGCCATTTGGAATGTGGTAGTTTTGCATAATCTATTTGTAAGTGCTTGTTTCCAATGTTGCTGACTGTATCTGTGGAGCTTGTTGTACAACCTTTACATAACCAGGTTTGTAAAACAGTTGAGTGAACTG... | TTCAAAAATATCTCAGAGAGGATTTGAGATTTCTATTTTGCTAGAGAGACATGCTTGGTCAGATTCAACATTTACCAACTCTCTTTCATGGAGGGAATTTGCTGGGCTCTTTTCCTTGCAATTTCTAAGCCAAGTGTCTTCTGCTTCTGTAAACTACTTCACTTAACTGAAATTTATAACGAATTCTTCCTGCCATTTGGAATGTGGTAGTTTTGCATAATCTATTTGTAAGTGCTTGTTTCCAATGTTGCTGACTGTATCTGTGGAGCTTGTTGTACAACCTTTACATAACCAGGTTTGTAAAACAGTTGAGTGAACTG... | benign | 110,017 |
Does the variant on chromosome 6 at location 70240672 affecting gene COL9A1 (collagen type IX alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TCAGTTCTTTAAAAATGACCCATTTGGAGAGGACATTAGAGTATTACCATGTAACACTCATTGAGTCATTTACAATATGAAAGAAAAAAAACACTTCCTTTCCAGTGGTTAGTTCAAAAGGTAAATCCATTTACACAGTGGTGAGGTATTTTTCTATTGGATTAATCCATTGCCTAAAGTACAAATTTAGACATTTATTTCCATGAAAGTAAGTCCTTTAAGAGTTGAGTGTTGGCCGGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTAAGGAATTCGAGACCA... | TCAGTTCTTTAAAAATGACCCATTTGGAGAGGACATTAGAGTATTACCATGTAACACTCATTGAGTCATTTACAATATGAAAGAAAAAAAACACTTCCTTTCCAGTGGTTAGTTCAAAAGGTAAATCCATTTACACAGTGGTGAGGTATTTTTCTATTGGATTAATCCATTGCCTAAAGTACAAATTTAGACATTTATTTCCATGAAAGTAAGTCCTTTAAGAGTTGAGTGTTGGCCGGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTAAGGAATTCGAGACCA... | benign | 110,033 |
A genetic alteration at chromosome 6, position 70241403, in gene COL9A1 (collagen type IX alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAAAGTTATTGTGCTACTAAAATACGGAAAACCATGAACAGATTAACTCCGGCACTGCAAAAAAATATTAGACTCCAATTTTGGATTCTAATCTCAGTTCTACTTAACTCTGTGACCCTCTGTAAGCTATGTAGCCTCCCAGCCTTTGGCTAATTTATCTGTTAAATAAAAGGGTTGAATCAGAGCTTTCCAGGGTTTCATCCAGATCTCAAATGCTAGGTGTCAAGAATTAAAAATGTGGAAGGCAAAAGATATTAAAATAGCATTATCTTATAAAACACAAGAGACATTTAGACCTGATGACTTCATTTTTGTAATTC... | AAAAGTTATTGTGCTACTAAAATACGGAAAACCATGAACAGATTAACTCCGGCACTGCAAAAAAATATTAGACTCCAATTTTGGATTCTAATCTCAGTTCTACTTAACTCTGTGACCCTCTGTAAGCTATGTAGCCTCCCAGCCTTTGGCTAATTTATCTGTTAAATAAAAGGGTTGAATCAGAGCTTTCCAGGGTTTCATCCAGATCTCAAATGCTAGGTGTCAAGAATTAAAAATGTGGAAGGCAAAAGATATTAAAATAGCATTATCTTATAAAACACAAGAGACATTTAGACCTGATGACTTCATTTTTGTAATTC... | benign | 110,036 |
Variant on chromosome 6, at position 70252251, affecting COL9A1 (collagen type IX alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGAGCCAAGATCCTACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTTTAAAATAAAATAAAATAAGATGAATAAGAGATGTAATAGTAAACACTCGCAAAGCTCTAATGGCCACACACTGCTCAATCTTCCTGGGCTAGTCATATAGCATCTTCATTGTTTTAGAAATGTGATCTGGCTATAATGTCATTGCTTCGACAGTTAACTTGTGGAAAGTATTTTAATTAGAAATTCACAAGCTTCAAGCAAAAGAAAAGAATAAAATAAGCACAGAGCAAGTGAGTGAGGGGCATTATGAGCTGGTTGTTTTGG... | GTGAGCCAAGATCCTACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTTTAAAATAAAATAAAATAAGATGAATAAGAGATGTAATAGTAAACACTCGCAAAGCTCTAATGGCCACACACTGCTCAATCTTCCTGGGCTAGTCATATAGCATCTTCATTGTTTTAGAAATGTGATCTGGCTATAATGTCATTGCTTCGACAGTTAACTTGTGGAAAGTATTTTAATTAGAAATTCACAAGCTTCAAGCAAAAGAAAAGAATAAAATAAGCACAGAGCAAGTGAGTGAGGGGCATTATGAGCTGGTTGTTTTGG... | benign | 110,041 |
Variant in gene COL9A1 (collagen type IX alpha 1 chain), located at chromosome 6 position 70263303: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCCAACTCGGGGCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAAT... | TCCAACTCGGGGCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAAT... | benign | 110,065 |
Mutation at chromosome 6, position 70263312, within COL9A1 (collagen type IX alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGGCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAATGGGGCAAGT... | GGGCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAATGGGGCAAGT... | benign | 110,067 |
Does the chromosome 6 mutation at position 70263314 within gene COL9A1 (collagen type IX alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAATGGGGCAAGTCC... | GCAATAGGAACCCATCTTAGTCATAAGAGTGGATAATCCTAAAAATGAGGGGCGGGGTGTGATTTCTAGGATCTCTTTCAATACTGAAATGTTACCATTCTGGACTCTCTGGCCCCCATACTAGGAGGGATCCAGAAATGGATCCTGGAAGGAGTGAGCTTGGGAATACCCTTGGAAGCAGAGGAGGGTGGATGCTCCATTAGGAAAGTGGGGGTAGCTACTTCTGGACAACCTGCTAACTGTCCCCATTGGCTTAAGATAAAGGAGCTCTAGGCCAGCATTTCCCTCTTCTTCTCACTTAGAGAAAATGGGGCAAGTCC... | benign | 110,068 |
Gene COL9A1 variant at chromosome position 70270332 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['COL9A1-related_disorder'] | AGCTCATTGCAACCTTGACTTCTCGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCCAGGACTACAAGTGCATGCCACCATGCCTAGCTAATTTTTTATTTCTTGTAGAGACAGGGGTCTCCCTCTGTTGTCCAGGTTGGTCTCAAACTCCTGGGTTTAAGCAATCCTCCCACCTTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAACCACTACACTCAGCCAGGAAGCAAACTTCTGAATCTTACTTTGGTGTTCTAAAGTCTCTCAATCCAATGTATTTTATTGGTATTTCTTCCCTGAACTAGAAAGC... | AGCTCATTGCAACCTTGACTTCTCGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCCAGGACTACAAGTGCATGCCACCATGCCTAGCTAATTTTTTATTTCTTGTAGAGACAGGGGTCTCCCTCTGTTGTCCAGGTTGGTCTCAAACTCCTGGGTTTAAGCAATCCTCCCACCTTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAACCACTACACTCAGCCAGGAAGCAAACTTCTGAATCTTACTTTGGTGTTCTAAAGTCTCTCAATCCAATGTATTTTATTGGTATTTCTTCCCTGAACTAGAAAGC... | pathogenic | 110,077 |
Located at chromosome 6 position 70283783, the variant affecting gene COL9A1 (collagen type IX alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['COL9A1-related_disorder'] | CATTAAACCCAGGAGGAGTTGTGGAAAAGGAAGGGTCTAACGCCTTTGTATCCTCAAAAGGATACAAAAATGAAAATGGGGCTCATTCGATACCTCGATTTATCAGTCATTGCAGGTCAGTGTTTTGGCCAGAATGGAACAGCCAAGAACAGAGACTCCACACCAGGATCTTTGTCCAGTAGAATGGGGAGGCGGGGCGTACACTTGAGGAAAAGATTTGGGAGGAGTAGGGCAGGGCAGCCTTGAGACCAGTGCCTGGCCTCATTTCAGTTTTACCTGCAGTGACACTCCCTCAGTCCCTTGAATTAGGTCTTTGCATC... | CATTAAACCCAGGAGGAGTTGTGGAAAAGGAAGGGTCTAACGCCTTTGTATCCTCAAAAGGATACAAAAATGAAAATGGGGCTCATTCGATACCTCGATTTATCAGTCATTGCAGGTCAGTGTTTTGGCCAGAATGGAACAGCCAAGAACAGAGACTCCACACCAGGATCTTTGTCCAGTAGAATGGGGAGGCGGGGCGTACACTTGAGGAAAAGATTTGGGAGGAGTAGGGCAGGGCAGCCTTGAGACCAGTGCCTGGCCTCATTTCAGTTTTACCTGCAGTGACACTCCCTCAGTCCCTTGAATTAGGTCTTTGCATC... | pathogenic | 110,103 |
Mutation at chromosome 6, position 70300153, within COL9A1 (collagen type IX alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CTTTTGAATTGGCAGGACTTGGGAGGCAGATTATAAAGAAAGGATCCTCTAAGGAGAAAAGACTTTCATATACATGCATTTTCTCCTTCTAGTGCTCTTCACCACTAATAATAAACACTTACCCAATACCAGTGTGGACTGGGCTCTTGAAGCACTCTCCAGTTATGAACACCTACTCTACATAGCAACCTCATGACAGAGTTACTATTCCTAATTTTAAACTGAGGGAACTGAAGTAAAGATAGTCTAAGTACTTTCCCAAGAATAAACTTTACTGTTTACTTGGAATTCCACATGTCTGAGTCTCTAACTTTCCTCCT... | CTTTTGAATTGGCAGGACTTGGGAGGCAGATTATAAAGAAAGGATCCTCTAAGGAGAAAAGACTTTCATATACATGCATTTTCTCCTTCTAGTGCTCTTCACCACTAATAATAAACACTTACCCAATACCAGTGTGGACTGGGCTCTTGAAGCACTCTCCAGTTATGAACACCTACTCTACATAGCAACCTCATGACAGAGTTACTATTCCTAATTTTAAACTGAGGGAACTGAAGTAAAGATAGTCTAAGTACTTTCCCAAGAATAAACTTTACTGTTTACTTGGAATTCCACATGTCTGAGTCTCTAACTTTCCTCCT... | pathogenic | 110,112 |
Benign or pathogenic: chromosome 6, position 70302915, gene COL9A1 (collagen type IX alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Connective_tissue_disorder'] | CCTTGGTCCAGTTCAGTGGGGCTTCTGGAGAGTAGAGTTCTTAGGAATCTTTGTCAGATATAGGGGCCTGGGGAAGTCTTGAGATTCACTAATCCTAAATAAAATATAGAGGATGGATTTGATTTCATAAATTCGTTCTAAGAGATCAAATAAAAGTCCCGACTAGATTAATCCTAACATCTTAGAACTGGGAAGAGTAAAAAGAAGAAGAAAATAATCATGAGAAGGATTAAATCCTCAATTTGATAAGAAATCATAGAATGGAATTGTGTTCTCCTTACACAAATGGAAGGTCAAAGGGAAGAGAGATTTTTCACCAC... | CCTTGGTCCAGTTCAGTGGGGCTTCTGGAGAGTAGAGTTCTTAGGAATCTTTGTCAGATATAGGGGCCTGGGGAAGTCTTGAGATTCACTAATCCTAAATAAAATATAGAGGATGGATTTGATTTCATAAATTCGTTCTAAGAGATCAAATAAAAGTCCCGACTAGATTAATCCTAACATCTTAGAACTGGGAAGAGTAAAAAGAAGAAGAAAATAATCATGAGAAGGATTAAATCCTCAATTTGATAAGAAATCATAGAATGGAATTGTGTTCTCCTTACACAAATGGAAGGTCAAAGGGAAGAGAGATTTTTCACCAC... | pathogenic | 110,125 |
Variant in gene RIMS1 (regulating synaptic membrane exocytosis 1), located at chromosome 6 position 72392820: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCAGGAATTGTGTACTAATCAGTAAGATAACAAAGCCACTGAGTGTTACTGTGCAGCTTCTCTATTTAATCAGAAGTTCAACCATCCATTTTAAACCACCCTGATGGCTTATAAGTAAGTACACATGGACACACCTCTACACCTGGTCATTCATACCTTTCAAAGGGTGAAGAAATTCTGAGTCCACATGAACAAATTGATTTCTTGCATCTAGGAAAGCCCAGACTAGTTCCTTACTGGATGTTTAGTGTACAAATGCCACAGGTAATGGACTCTTTCATATGGGAAACTCATAGTCTGTCCCTGTCACCAAAGTCCAA... | CCAGGAATTGTGTACTAATCAGTAAGATAACAAAGCCACTGAGTGTTACTGTGCAGCTTCTCTATTTAATCAGAAGTTCAACCATCCATTTTAAACCACCCTGATGGCTTATAAGTAAGTACACATGGACACACCTCTACACCTGGTCATTCATACCTTTCAAAGGGTGAAGAAATTCTGAGTCCACATGAACAAATTGATTTCTTGCATCTAGGAAAGCCCAGACTAGTTCCTTACTGGATGTTTAGTGTACAAATGCCACAGGTAATGGACTCTTTCATATGGGAAACTCATAGTCTGTCCCTGTCACCAAAGTCCAA... | benign | 110,171 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 73466390, gene MTO1 (mitochondrial tRNA translation optimization 1): what disease(s) if pathogenic? | pathogenic; ['MTO1-related_disorder', 'Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency'] | AGGTAACTTGCCATGATCACAGAGCTCATAAGTGGTAGGTCTAGAAATTGAGCCAGATATCTCTTTCACACACACTCCTCATAATGACACTTCATGCTCATAATCACAGTGCTATCCAGTCTCCCTGTGGAGACCATTAAAACTTGTGGAGGTCTTGTCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCAAAGGCGGGCAAATCACCTGATGTCGGAAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCTGTCTCTATTAAAAATAGAAAATTAAACACCCAAGAATGATCAATAAATACTAA... | AGGTAACTTGCCATGATCACAGAGCTCATAAGTGGTAGGTCTAGAAATTGAGCCAGATATCTCTTTCACACACACTCCTCATAATGACACTTCATGCTCATAATCACAGTGCTATCCAGTCTCCCTGTGGAGACCATTAAAACTTGTGGAGGTCTTGTCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCAAAGGCGGGCAAATCACCTGATGTCGGAAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCTGTCTCTATTAAAAATAGAAAATTAAACACCCAAGAATGATCAATAAATACTAA... | pathogenic | 110,224 |
Regarding the variant found on chromosome 6 at position 73473561 in gene MTO1 (mitochondrial tRNA translation optimization 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency'] | CAAGTGATCTTCCTGCCTCAGCCTCCTGTGTAGCTGGGACCACAGGCATGTGTCACCACCCCTGGCTAATTTATTATTTTTTTTTGTAGAGATGGGGGTCTCACTATGTTGCCAGGACTGGTCTTGAACCCCAGGGCTCCAGTGATCTTCCTGCCCCAGTCTCTCAAAGTGTTCATATTATAGTCATGAGCCACTGAGCCTGGCCGATTTAATTTAATATCTTTAAATGCTATTTTGTGATCCTGTCCATATTTTATAGGCCCAACAATAACAATTTTTTTGTGGTAAAATATACAAACCATAAAATGTACCATTTTAAC... | CAAGTGATCTTCCTGCCTCAGCCTCCTGTGTAGCTGGGACCACAGGCATGTGTCACCACCCCTGGCTAATTTATTATTTTTTTTTGTAGAGATGGGGGTCTCACTATGTTGCCAGGACTGGTCTTGAACCCCAGGGCTCCAGTGATCTTCCTGCCCCAGTCTCTCAAAGTGTTCATATTATAGTCATGAGCCACTGAGCCTGGCCGATTTAATTTAATATCTTTAAATGCTATTTTGTGATCCTGTCCATATTTTATAGGCCCAACAATAACAATTTTTTTGTGGTAAAATATACAAACCATAAAATGTACCATTTTAAC... | pathogenic | 110,228 |
Variant at chromosome 6, position 73479924, gene MTO1 (mitochondrial tRNA translation optimization 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTTATCTGGAACAGTTTGTCAATCTTTAATGGTGCCGACATTTTTGAAGTGTAGAGGCCACTTTTACCTATCTCTCGAGTTTTAAAAAAATGTGGCGTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAAAAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCCCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAG... | TTTATCTGGAACAGTTTGTCAATCTTTAATGGTGCCGACATTTTTGAAGTGTAGAGGCCACTTTTACCTATCTCTCGAGTTTTAAAAAAATGTGGCGTGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAAAAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCCCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAG... | benign | 110,230 |
The mutation impacting SLC17A5 (solute carrier family 17 member 5) on chromosome 6 at position 73600359: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Salla_disease'] | CAAAGTTTTTGAGGCAGTGCTCAAAGTAAGAAATTACAGGCTGGGCGCGGTGGCTCATGCCTGATATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATTCAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTCCAACCTGGGGGACGAGTGAGACTTCATCTCA... | CAAAGTTTTTGAGGCAGTGCTCAAAGTAAGAAATTACAGGCTGGGCGCGGTGGCTCATGCCTGATATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATTCAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTCCAACCTGGGGGACGAGTGAGACTTCATCTCA... | pathogenic | 110,266 |
Is the genetic change at chromosome 6, position 73610435, within gene SLC17A5 (solute carrier family 17 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Salla_disease'] | TAGTCCTGATTGTTGCTGGCAATCATTTCATTGTGTGATTTTATAAGCAGACCCAGTCTTAGGACAAAACTACTACTGTAAAAGACAGAGAGTGAGAAAGAAACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAAT... | TAGTCCTGATTGTTGCTGGCAATCATTTCATTGTGTGATTTTATAAGCAGACCCAGTCTTAGGACAAAACTACTACTGTAAAAGACAGAGAGTGAGAAAGAAACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAAT... | pathogenic | 110,272 |
Evaluate this variant at chromosome 6, position 73610519, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Salla_disease'] | ACAGAGAGTGAGAAAGAAACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAATCCTAGGCTTGACAAAACCTCAAGTCTTGGCCAGGTGCTGTGGCCCACGCCTGTAATCCTAGCACTTCGGGGGGCTGAGGCGGGA... | ACAGAGAGTGAGAAAGAAACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAATCCTAGGCTTGACAAAACCTCAAGTCTTGGCCAGGTGCTGTGGCCCACGCCTGTAATCCTAGCACTTCGGGGGGCTGAGGCGGGA... | pathogenic | 110,273 |
Regarding the variant at chromosome 6 and position 73610537, affecting gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Salla_disease'] | ACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAATCCTAGGCTTGACAAAACCTCAAGTCTTGGCCAGGTGCTGTGGCCCACGCCTGTAATCCTAGCACTTCGGGGGGCTGAGGCGGGAAGATTACTTGAGGCCAGG... | ACAATCTGTGGTGATATTAGTAGGCAGCTGGATATCAACTCTTGCCTGAAGCCTATTATTTCTGGATACAATTAAGTGAATCAATAGATTATGCTGTTTAGCCCAGTTTAAATTAGAATTTCTATACTTCAACTAAAAACATCCTAAGCGATAACATAGCCTAGAACTATTTCTTGCCAAAACTCTCAATTCCCATATCCCTTTGACTATTCGTCAATCCTAGGCTTGACAAAACCTCAAGTCTTGGCCAGGTGCTGTGGCCCACGCCTGTAATCCTAGCACTTCGGGGGGCTGAGGCGGGAAGATTACTTGAGGCCAGG... | pathogenic | 110,274 |
Mutation found at chromosome 6 position 73615312, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['SLC17A5-related_disorder', 'Salla_disease'] | TCTGAGCTGAAAGCACAGTGATATATAAAATTGTGAGGGATGATGTTTGGCACAGCAAGCCATTTTAAAAATAATTATAAGCCATGGTGGAGATAAATCTTTTATAAATTTTTTTTTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTT... | TCTGAGCTGAAAGCACAGTGATATATAAAATTGTGAGGGATGATGTTTGGCACAGCAAGCCATTTTAAAAATAATTATAAGCCATGGTGGAGATAAATCTTTTATAAATTTTTTTTTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTT... | pathogenic | 110,278 |
Chromosome 6, position 73615417, gene SLC17A5 (solute carrier family 17 member 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Salla_disease'] | AAATTTTTTTTTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACTGCGCCCAGTGAATATTATAAATCTTAATCCTCAAAAT... | AAATTTTTTTTTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACTGCGCCCAGTGAATATTATAAATCTTAATCCTCAAAAT... | pathogenic | 110,283 |
Clinically, how would you classify the variant at chromosome 6, position 73615427, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Salla_disease'] | TTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACTGCGCCCAGTGAATATTATAAATCTTAATCCTCAAAATGTATGATTCA... | TTTTTGAGACAGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAGGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACTGCGCCCAGTGAATATTATAAATCTTAATCCTCAAAATGTATGATTCA... | pathogenic | 110,285 |
Does the chromosome 6 mutation at position 73621876 within gene SLC17A5 (solute carrier family 17 member 5) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | CTGGAAAATCTCAAATAGAAACATCAGTGTAGTAATCTTTAAATATACTTTATAAGTAAAATAAGATATTTTGTTAATATGATTTTGAGAATTTGTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGGCCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCTGCTTCAGCCTCTCGAGTAGCTAGGACTACAAGTGCCTGCTACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACATGTTGGCCAGGCTGGCCTTGAACT... | CTGGAAAATCTCAAATAGAAACATCAGTGTAGTAATCTTTAAATATACTTTATAAGTAAAATAAGATATTTTGTTAATATGATTTTGAGAATTTGTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGGCCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCTGCTTCAGCCTCTCGAGTAGCTAGGACTACAAGTGCCTGCTACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACATGTTGGCCAGGCTGGCCTTGAACT... | pathogenic | 110,294 |
Variant in SLC17A5 (solute carrier family 17 member 5), chromosome 6, position 73635384—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | TCAGCTGCTTGTAGAGACATTTATAGCAAAATAAAAAACTTAAAAAGAAATGTTAAAGAGTACATTTTTCCTTCTTTTTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGGTCTTGAACTCCAGGGCTCAAGAAAACTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAATCACCATGCCCAGCCAAGACTAAGTTTTTAATTTTACTGCCTGGTTATATTGTATATAAATATTTAAAATATCAATCTTGGGCTAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGG... | TCAGCTGCTTGTAGAGACATTTATAGCAAAATAAAAAACTTAAAAAGAAATGTTAAAGAGTACATTTTTCCTTCTTTTTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGGTCTTGAACTCCAGGGCTCAAGAAAACTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAATCACCATGCCCAGCCAAGACTAAGTTTTTAATTTTACTGCCTGGTTATATTGTATATAAATATTTAAAATATCAATCTTGGGCTAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGG... | pathogenic | 110,303 |
A genetic variant at chromosome 6, position 73635453, affecting gene SLC17A5 (solute carrier family 17 member 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | CCTTCTTTTTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGGTCTTGAACTCCAGGGCTCAAGAAAACTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAATCACCATGCCCAGCCAAGACTAAGTTTTTAATTTTACTGCCTGGTTATATTGTATATAAATATTTAAAATATCAATCTTGGGCTAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATAAGGTGAAATCCCGTCTCTACTAAAAATAC... | CCTTCTTTTTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGGTCTTGAACTCCAGGGCTCAAGAAAACTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAATCACCATGCCCAGCCAAGACTAAGTTTTTAATTTTACTGCCTGGTTATATTGTATATAAATATTTAAAATATCAATCTTGGGCTAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAATAAGGTGAAATCCCGTCTCTACTAAAAATAC... | pathogenic | 110,307 |
For chromosome 6, position 73636621, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Salla_disease'] | TATTTTTAGCAGAGATGGGGTTTTGTCATGTTGGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAAT... | TATTTTTAGCAGAGATGGGGTTTTGTCATGTTGGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAAT... | pathogenic | 110,311 |
Determine whether the variant at chromosome 6, position 73636627, in gene SLC17A5 (solute carrier family 17 member 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Salla_disease'] | TAGCAGAGATGGGGTTTTGTCATGTTGGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAATCCTTTC... | TAGCAGAGATGGGGTTTTGTCATGTTGGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAATCCTTTC... | pathogenic | 110,312 |
The chromosome 6, position 73636653 genetic variant in gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | GGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAATCCTTTCATGAATAACACATTTTATTTTCTACT... | GGCCGGGCTGATCTCGAACTCCTGACCTCAGGCGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCATCAGGCTGGCCAAGCATCCTAAATCTTAAAATCCAAAAATCTGAACTCTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATGTGGGTTCTCAAAAACTTTTGGATTTCAGAGTATTTTGGATTTAGAATTTTCAGATTTGGGATGTACAACTGTATAAACACACTAGTTGGTTTTCTAACAACTAATGGTCAGAATGAGAATCCTTTCATGAATAACACATTTTATTTTCTACT... | pathogenic | 110,313 |
Clinical classification of chromosome 6, position 73638491, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | TCAGCTCGTAACTCAAATAGGTCAAGTAAATCATACCAACTTGAAAAACAGGTTATCAGGAAGTGTTTCAGAACTGTGGTTCAGTGATTTGGAAGATATATTTTTAAAACATTATTAGGCTACTATTATTACATTTTGAATTTGTTACATTATAATTTAGTTAAAATTTTAAACTTACCAAAAAAGTAGAAGACATAAGTCCAATTCATATAGTAGCAAATTATTCCAGAAAGAGGAAGAGAAATTACTGTCCCAAGCTGTGCTCCTAGAACAACACATAAGACTATTTTATAAACTTTGGAGAGAGAAACAAGGATAGG... | TCAGCTCGTAACTCAAATAGGTCAAGTAAATCATACCAACTTGAAAAACAGGTTATCAGGAAGTGTTTCAGAACTGTGGTTCAGTGATTTGGAAGATATATTTTTAAAACATTATTAGGCTACTATTATTACATTTTGAATTTGTTACATTATAATTTAGTTAAAATTTTAAACTTACCAAAAAAGTAGAAGACATAAGTCCAATTCATATAGTAGCAAATTATTCCAGAAAGAGGAAGAGAAATTACTGTCCCAAGCTGTGCTCCTAGAACAACACATAAGACTATTTTATAAACTTTGGAGAGAGAAACAAGGATAGG... | pathogenic | 110,318 |
Is chromosome 6, position 73641708, gene SLC17A5 (solute carrier family 17 member 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | GTGTCCTTTATGAATGAGGAAATGCACCTGTGATACATATTGAAGGGATGAAGAAGGACGAGAGAACCTGAGTATAAATACAACTTAAATTCTATTTAGTTGTTGGCTGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGG... | GTGTCCTTTATGAATGAGGAAATGCACCTGTGATACATATTGAAGGGATGAAGAAGGACGAGAGAACCTGAGTATAAATACAACTTAAATTCTATTTAGTTGTTGGCTGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGG... | pathogenic | 110,321 |
For chromosome 6, position 73641806, gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | GTTGTTGGCTGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAA... | GTTGTTGGCTGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAA... | pathogenic | 110,322 |
Determine whether the variant at chromosome 6, position 73641866, in gene SLC17A5 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Salla_disease'] | GGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAATAAAATGTCACCTGAGATAACAGTGGTAATATGATCAATATGCCGTAATGTTAAATTAGT... | GGTGGATCACTTGATGCCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAATAAAATGTCACCTGAGATAACAGTGGTAATATGATCAATATGCCGTAATGTTAAATTAGT... | pathogenic | 110,324 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 73641905, gene SLC17A5: what disease(s) if pathogenic? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | CCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAATAAAATGTCACCTGAGATAACAGTGGTAATATGATCAATATGCCGTAATGTTAAATTAGTGGCATAAACTGGAAGTAAAATATGGGAATACATTCAGCA... | CCAACATGGTGAAACCCCGCCTCTACTAAATATACAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGACTAGAAAAAAATAAATAAATGAATAAATAAAATGTCACCTGAGATAACAGTGGTAATATGATCAATATGCCGTAATGTTAAATTAGTGGCATAAACTGGAAGTAAAATATGGGAATACATTCAGCA... | pathogenic | 110,325 |
The chromosome 6, position 73644553 genetic variant in gene SLC17A5 (solute carrier family 17 member 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | TGCATAAATGTAGATATTAATAATATCTCCCCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAA... | TGCATAAATGTAGATATTAATAATATCTCCCCATTTCAGACGAAGCACTTAAACAAGCACATGGAACAATTCCAAAGAGCAAGAATTTAAATCAAGCCACAAACTTCATGTGAATAGAACCTGTGTTTTCATTAGTAACAGCACACAGCAAGGTACTAATGAAGATTTAGTGACTGATCTGAGTATCTGACATTTTTAATGCAGTGTAGCTGTATAACAAAGCCAACATGTCAAGAACCATTCCGGGATTTCTTTCTACTGCTGATATAAGGCAGATGAAGATAAGTAGCAGGGTCAACAAAAGCACTTTGCAAAGAAAA... | pathogenic | 110,332 |
Evaluate if the mutation on chromosome 6 at position 73653885 in SLC17A5 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Salla_disease', 'Sialic_acid_storage_disease,_severe_infantile_type'] | TTGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAA... | TTGCTGTGATAATAGTACTGTAGTTATGTTAAAAAGAGTCCTTATCTTTTAGAGGTAAATAATTGAAATATTTACATATGAAATGACATGGTATCTGGGATTTGCTTCAAAATACACAGTATGTATGAGCATAAGGCAAGACTGGCCATGAATTGATAACTTTAATCTGGGTGCTGGTTACATGGGGGCTCATTATATACTTCTCTTAATTGCCATATATGCTCCTTCTCTATAAAACTTATCATATTCTAAATAGCAAAAACAGTATGTTACTATTATTTCCACTTCACTTGCTCTCCAGTGGGTATGTAAAGAGGGAA... | pathogenic | 110,342 |
Is the variant located on chromosome 6 at position 75109011, gene COL12A1 (collagen type XII alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bethlem_myopathy_2', 'Ullrich_congenital_muscular_dystrophy_2'] | GGGATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAATGCTTTTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTATAGGCGTGCACCACCATGCCCAGCTAATTTTTTTGTATTTTGTAATAGAGGCGGGGTTTTACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCACCCAAAGTGCTAGGACTACAGGCGTGAGCCATGGTGCCCAGCCTTGTGTTATTTTTTAAGAGAATATTAATTTCTATAATTAAATGAATTTGAAGCCCACACACATTTCAATCAAATTTGTTTTTTGTTTTTGT... | GGGATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAATGCTTTTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTATAGGCGTGCACCACCATGCCCAGCTAATTTTTTTGTATTTTGTAATAGAGGCGGGGTTTTACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCACCCAAAGTGCTAGGACTACAGGCGTGAGCCATGGTGCCCAGCCTTGTGTTATTTTTTAAGAGAATATTAATTTCTATAATTAAATGAATTTGAAGCCCACACACATTTCAATCAAATTTGTTTTTTGTTTTTGT... | pathogenic | 110,378 |
The mutation impacting COL12A1 (collagen type XII alpha 1 chain) on chromosome 6 at position 75113758: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAGTAGAACTTGCTTTTCTGATGAGGCATTTATTTTACTGCACTTCACTATGGAGGTCTGTAAACCTTTAAGTAGATATACGATTGTACTCAGGGATTTTTGTTTTTCCTTTTTTTTTTGTTATCACTAATATGTACATTGAAGCTTCCTTAAGCTTGATGAGGAGAGTCCTTTACCATCCTTATCAAAAATCTGATTAATGAATAAGAACAACACTCTGGAAAGAAAGCAAGATTCCTCAGGAGTAGAAACAGTAAGAAATACTGCTAAATCTACTCAGGTAGAAGAAATTTCTTCAATTTTCACTTGAGAATCAGCTT... | AAGTAGAACTTGCTTTTCTGATGAGGCATTTATTTTACTGCACTTCACTATGGAGGTCTGTAAACCTTTAAGTAGATATACGATTGTACTCAGGGATTTTTGTTTTTCCTTTTTTTTTTGTTATCACTAATATGTACATTGAAGCTTCCTTAAGCTTGATGAGGAGAGTCCTTTACCATCCTTATCAAAAATCTGATTAATGAATAAGAACAACACTCTGGAAAGAAAGCAAGATTCCTCAGGAGTAGAAACAGTAAGAAATACTGCTAAATCTACTCAGGTAGAAGAAATTTCTTCAATTTTCACTTGAGAATCAGCTT... | benign | 110,385 |
Evaluate if the mutation on chromosome 6 at position 75117544 in COL12A1 (collagen type XII alpha 1 chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bethlem_myopathy_2', 'Ullrich_congenital_muscular_dystrophy_2'] | CTGTTTTAACAGCTTTTCTAGCCTTAAATTCAAAAGGGTCAGTAATCTGTTACCAGCATGAGCTTCTTGGATCTGGCAATAACGAGGCCTGAGTCTTAGTCTCCTGTGTGCAAACAACTATGTAACCTGGAAACAATTAGCCTAACTGTATTTAAGAAAACCAATCAGGGTCATCCATAAGCAGTCTTCTGACAATTCTAAAGTCCCAGGATTCTGGGAAGTCAGCAAATATTCCAAGAACTTTTTGCAGGTCTTAAGAAAAGGAAAACCTCCTGTTGTCACACTTACGCTGTAGGCTGATTCACAAACGCATTCTTCTG... | CTGTTTTAACAGCTTTTCTAGCCTTAAATTCAAAAGGGTCAGTAATCTGTTACCAGCATGAGCTTCTTGGATCTGGCAATAACGAGGCCTGAGTCTTAGTCTCCTGTGTGCAAACAACTATGTAACCTGGAAACAATTAGCCTAACTGTATTTAAGAAAACCAATCAGGGTCATCCATAAGCAGTCTTCTGACAATTCTAAAGTCCCAGGATTCTGGGAAGTCAGCAAATATTCCAAGAACTTTTTGCAGGTCTTAAGAAAAGGAAAACCTCCTGTTGTCACACTTACGCTGTAGGCTGATTCACAAACGCATTCTTCTG... | pathogenic | 110,388 |
A genetic variant on chromosome 6, position 75123999, affects the gene COL12A1 (collagen type XII alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bethlem_myopathy_2', 'Ullrich_congenital_muscular_dystrophy_2'] | CCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAGCTAATTTCTCTATTTTTAGCAGAGACGGGTTTAACCATGTTGGCCATGATGGTCTCGATCCACCTGTCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAAGTCCTTTGTAAAATTTAAATTAAGCCACTAGAATCATATGCAGGAAAGGAGAAGATTTTTATTGGAATATCTAGACTTAGAGGCTAAGAAAAAATTCCAAAAACAATTAACAAAATTTTAGTTTATAA... | CCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCAGCTAATTTCTCTATTTTTAGCAGAGACGGGTTTAACCATGTTGGCCATGATGGTCTCGATCCACCTGTCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAAGTCCTTTGTAAAATTTAAATTAAGCCACTAGAATCATATGCAGGAAAGGAGAAGATTTTTATTGGAATATCTAGACTTAGAGGCTAAGAAAAAATTCCAAAAACAATTAACAAAATTTTAGTTTATAA... | pathogenic | 110,400 |
Is the variant located on chromosome 6 at position 75143340, gene COL12A1 (collagen type XII alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bethlem_myopathy_2', 'Ullrich_congenital_muscular_dystrophy_2'] | ATGTCTCTTCCTTCATTAGGAGAGAGCAAGGGGGAAGTAGAATCCATAGCAAAAGACCAACAGGCAATAATGACTGTGTTAAATACTATGGAGAAACCATGAGAGGGAGAGGAACTGACATCTCCAGGAGCTGCAGCAGACGGAGCAGGAAGCAGGGTCTGGGCAGGCTGCCCGGTATCCCCCAGCACTCCACTTACAGTGCAGTCGCCCCTTCCTCTGAAATCTGACAGCACACAATTTCAGTGCCACCTGACCTACCTTACATGATCCCATGTATTCTCAGTTAATTTTTTCTTATCTCCACAACTAAATCATGAACT... | ATGTCTCTTCCTTCATTAGGAGAGAGCAAGGGGGAAGTAGAATCCATAGCAAAAGACCAACAGGCAATAATGACTGTGTTAAATACTATGGAGAAACCATGAGAGGGAGAGGAACTGACATCTCCAGGAGCTGCAGCAGACGGAGCAGGAAGCAGGGTCTGGGCAGGCTGCCCGGTATCCCCCAGCACTCCACTTACAGTGCAGTCGCCCCTTCCTCTGAAATCTGACAGCACACAATTTCAGTGCCACCTGACCTACCTTACATGATCCCATGTATTCTCAGTTAATTTTTTCTTATCTCCACAACTAAATCATGAACT... | pathogenic | 110,438 |
The mutation impacting COL12A1 (collagen type XII alpha 1 chain) on chromosome 6 at position 75181216: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTC... | TTTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTC... | benign | 110,485 |
Considering the genetic mutation at chromosome 6, position 75181216, impacting COL12A1 (collagen type XII alpha 1 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTC... | TTTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTC... | benign | 110,486 |
Does the chromosome 6 mutation at position 75181217 within gene COL12A1 (collagen type XII alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | benign | 110,488 |
Assess the variant on chromosome 6, position 75181217, impacting COL12A1 (collagen type XII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | benign | 110,489 |
Is the genetic change at chromosome 6, position 75181217, within gene COL12A1 (collagen type XII alpha 1 chain) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | TTCTTATCAACTAAAGCAAATTTAAATCCCAGATTCCATTACAGACAATATAACTGAAAAGACTTTACCAAACTCCATTGTAGTAGACCAATGACCAAAAACTAGAGTGTGTATGAATGGAGTGACTTCTACTCAAAAACCCTGAGACAAGTCCTCTCTTGAGACAGATTTCCCATTCCCCTCCCAAAATGCTGAAAAGAAAGGGTCAGGGTCATCGAGCAGCAGTGTGGGCATTACAGGAAAAGCATCAGAAACTCAGAAATATCTGAGTACAGCCTTCTCCCTTATATGACCACAAGTCATAAGATGAAAGGACTTCT... | benign | 110,490 |
Is the chromosome 6, position 75844942 variant in MYO6 (myosin VI) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_22', 'Autosomal_recessive_nonsyndromic_hearing_loss_37', 'Hearing_impairment'] | GCATCCTGAAAGGGCAGCTATTGAAATATATCTGGTCAGAGGATTTCCTGTTTCTGCAGTGTGAACCAGGAGGCCTGATTTCCTTTCTTACAGGAGAGTCCTTGTGATGGTAAGAGGAAGAGTAGGGGAACAGCGTTGCATACATCTGCCATCTTGAATATTCCTCTCATATGCAGGCACAACACACCCACTACTATATCCACTTCCCCCAAATAATTCTGCCTTAAAGTCACTTGAAAGTGTGTTAGTGATTTCATCAGGTTTTTCTGTAGTTTAGCCCTCTGGTTATAATTGAGAGATCAGGTTTTAAAAACAAAGGG... | GCATCCTGAAAGGGCAGCTATTGAAATATATCTGGTCAGAGGATTTCCTGTTTCTGCAGTGTGAACCAGGAGGCCTGATTTCCTTTCTTACAGGAGAGTCCTTGTGATGGTAAGAGGAAGAGTAGGGGAACAGCGTTGCATACATCTGCCATCTTGAATATTCCTCTCATATGCAGGCACAACACACCCACTACTATATCCACTTCCCCCAAATAATTCTGCCTTAAAGTCACTTGAAAGTGTGTTAGTGATTTCATCAGGTTTTTCTGTAGTTTAGCCCTCTGGTTATAATTGAGAGATCAGGTTTTAAAAACAAAGGG... | pathogenic | 110,530 |
Mutation at chromosome 6, position 75848543, within MYO6 (myosin VI): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATTTTTGTTTAATTTGGCATTTTATATATCATTATAGATACAGAATCTGAATTACAAACTATAAACTTTGCTATAGCCATGGTTGGTACTTTTAAGAAGCAACATTAATATTTATTATTGTATCTTTCTTTGTCTTGATAAGACTATGTTTTTCTGAGATATCAAAATATAGTAGCTATATTCCTTTCACTAAGATAATGGAGACCTTTCCTAGTGGGACATTTCAGCAGTTCTGAAGGGGGGAAAAAGATATAAATTTGATCATTTGCCATGGAAAAAAATGGAGTAGAGAGGAAAGAAAACGAGTTTACTCTCCAAAG... | ATTTTTGTTTAATTTGGCATTTTATATATCATTATAGATACAGAATCTGAATTACAAACTATAAACTTTGCTATAGCCATGGTTGGTACTTTTAAGAAGCAACATTAATATTTATTATTGTATCTTTCTTTGTCTTGATAAGACTATGTTTTTCTGAGATATCAAAATATAGTAGCTATATTCCTTTCACTAAGATAATGGAGACCTTTCCTAGTGGGACATTTCAGCAGTTCTGAAGGGGGGAAAAAGATATAAATTTGATCATTTGCCATGGAAAAAAATGGAGTAGAGAGGAAAGAAAACGAGTTTACTCTCCAAAG... | benign | 110,533 |
The mutation impacting MYO6 (myosin VI) on chromosome 6 at position 75861098: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGAAGAGATATGCTGCAGTTACCCTGATTGGTGTGGATGGATGGTGTATAACGGAAGGTGGCTCAGGGAATCTGGGAAGCCCAGCAGAGGCCCCGGGGCTCAGGCACGTCAGAAGTGTTAATGGTTCAGCTGAAGTTTAGGGACCCGATAAAAACCCTTAATAGGGGCTTCCTCAGAAGTGAACATCTGTTTTTAGTAGTGACTTTTAATGGACTTGAAGCTCTGTTTCTTTTTATGATTTTGTTGTCTCTACTTCTTTTTTTTTTTTGAGATAGAGTCTCATTCTGTTGCTCAGGCTGGAGTGCAGTGGTGTGATCTCG... | GGAAGAGATATGCTGCAGTTACCCTGATTGGTGTGGATGGATGGTGTATAACGGAAGGTGGCTCAGGGAATCTGGGAAGCCCAGCAGAGGCCCCGGGGCTCAGGCACGTCAGAAGTGTTAATGGTTCAGCTGAAGTTTAGGGACCCGATAAAAACCCTTAATAGGGGCTTCCTCAGAAGTGAACATCTGTTTTTAGTAGTGACTTTTAATGGACTTGAAGCTCTGTTTCTTTTTATGATTTTGTTGTCTCTACTTCTTTTTTTTTTTTGAGATAGAGTCTCATTCTGTTGCTCAGGCTGGAGTGCAGTGGTGTGATCTCG... | benign | 110,538 |
The genetic variant at chromosome 6, position 75890140, affecting gene MYO6 (myosin VI): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_22', 'Essential_tremor', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia', 'MYO6-related_disorder', 'Nonsyndromic_genetic_hearing_loss', 'likely other unspecified diseases'] | CCAGCCCAGCCAACATAGTGAATCGCCGTCTCTACTGAAAATACCAAAGTTAGCCAGGTGTGATCGCACGCGCCTGTAGTTCCAGCTACTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCTGCCTCAGCGACAGAGTGAGACTACGTCTAAAAATAAATAAATAAATGATAAAAGTAATATAATACTATAAAAAATTTGGAGGCCAGATGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGCAGGGATCACCTGAGCTCAGGAGTT... | CCAGCCCAGCCAACATAGTGAATCGCCGTCTCTACTGAAAATACCAAAGTTAGCCAGGTGTGATCGCACGCGCCTGTAGTTCCAGCTACTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCTGCCTCAGCGACAGAGTGAGACTACGTCTAAAAATAAATAAATAAATGATAAAAGTAATATAATACTATAAAAAATTTGGAGGCCAGATGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGCAGGGATCACCTGAGCTCAGGAGTT... | pathogenic | 110,552 |
Considering the genetic mutation at chromosome 6, position 75890208, impacting MYO6 (myosin VI): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness'] | CGCGCCTGTAGTTCCAGCTACTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCTGCCTCAGCGACAGAGTGAGACTACGTCTAAAAATAAATAAATAAATGATAAAAGTAATATAATACTATAAAAAATTTGGAGGCCAGATGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGCAGGGATCACCTGAGCTCAGGAGTTAGAGACCAACCTGATCAACATGGCCAAAACCTGTCTCCACCAAAAATACAAAAAATTATTTGGGCATG... | CGCGCCTGTAGTTCCAGCTACTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCTGCCTCAGCGACAGAGTGAGACTACGTCTAAAAATAAATAAATAAATGATAAAAGTAATATAATACTATAAAAAATTTGGAGGCCAGATGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGCAGGGATCACCTGAGCTCAGGAGTTAGAGACCAACCTGATCAACATGGCCAAAACCTGTCTCCACCAAAAATACAAAAAATTATTTGGGCATG... | pathogenic | 110,553 |
Regarding the variant found on chromosome 6 at position 75908554 in gene MYO6 (myosin VI): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hearing_impairment'] | TCTCTACAAAAATTATAAAAATTAGCCTGGCTTGTTGGTGGGTGCCTGTAGTCCCAGCTATTTAGGAGGCTGAGGTGGGAGAATTGCTTGAGCCCGGGTGGTGGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAAAGAGCCAGACCCCTTCTCAAAAAAAACAAAAAACAAAAAACAAACAAAACGCAAAACCAAAAAAGCAGGCCTTAAAGCACTGCGTAGCACTGTTTTGAAAAAGTTGAATTTATTTCATTTTATTGACTGCTTTGGATTTTATTTCTTTCCTCTTTCCCCATATGTGCT... | TCTCTACAAAAATTATAAAAATTAGCCTGGCTTGTTGGTGGGTGCCTGTAGTCCCAGCTATTTAGGAGGCTGAGGTGGGAGAATTGCTTGAGCCCGGGTGGTGGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAAAGAGCCAGACCCCTTCTCAAAAAAAACAAAAAACAAAAAACAAACAAAACGCAAAACCAAAAAAGCAGGCCTTAAAGCACTGCGTAGCACTGTTTTGAAAAAGTTGAATTTATTTCATTTTATTGACTGCTTTGGATTTTATTTCTTTCCTCTTTCCCCATATGTGCT... | pathogenic | 110,562 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 75917883, gene MYO6 (myosin VI). What disease(s) is it linked to if pathogenic? | benign | CAAATATTCTTTCAACTTCATCTCAATAGTGATTTTTGTATCAGAATCTTGTCCAAGTTGTTTCATTGATTTAGTAAGTGTTCTGCTTCCAACATCTTTCTTTTTAAGAAATTCCTAGTGTCTTTTTTGGCCTTTGAGGTTTTGGTAATTGTAGACCTGTTTCATAAGCTTTGTAATTCAGAAATCCTTGTATTTAGTAAGTGCTTGTTTTACATAACTGATAATTTTAAAATGTTTTCTTTGTGTGCTGTTAGTATTGATTCAAATGTCAGCAGCTTTAAGCCTAATATTTATGACTTTCACATTTGGAATTTAAAGAC... | CAAATATTCTTTCAACTTCATCTCAATAGTGATTTTTGTATCAGAATCTTGTCCAAGTTGTTTCATTGATTTAGTAAGTGTTCTGCTTCCAACATCTTTCTTTTTAAGAAATTCCTAGTGTCTTTTTTGGCCTTTGAGGTTTTGGTAATTGTAGACCTGTTTCATAAGCTTTGTAATTCAGAAATCCTTGTATTTAGTAAGTGCTTGTTTTACATAACTGATAATTTTAAAATGTTTTCTTTGTGTGCTGTTAGTATTGATTCAAATGTCAGCAGCTTTAAGCCTAATATTTATGACTTTCACATTTGGAATTTAAAGAC... | benign | 110,570 |
Located at chromosome 6 position 75919119, the variant affecting gene MYO6 (myosin VI)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACACACAGACACCCCTTTGCTGGAGAAACTTAGGACCCTGTCAGCCTTTTAAAGGAAACAGCAGGAGTGGTGTCCTAAATGATGTTCATGCAGCTGCTTTACCATGTTCACAGTCAAGCCCATGCATGCCAGGTTAAAACTGTGGAAATCAAAAGTAAATTCACTCATATTTTAATCATTTTAACTGAGATTTAAAATTAGAAGTTTAAACCACTATATATAAAGAACTAATCTTTTCTTAATACCAGTTCTTTCCATAGCATATGCTTTGCAAAGGCAGCATGCATAAAATATTTAAAATGAGAGGACAGAATGTTTTC... | ACACACAGACACCCCTTTGCTGGAGAAACTTAGGACCCTGTCAGCCTTTTAAAGGAAACAGCAGGAGTGGTGTCCTAAATGATGTTCATGCAGCTGCTTTACCATGTTCACAGTCAAGCCCATGCATGCCAGGTTAAAACTGTGGAAATCAAAAGTAAATTCACTCATATTTTAATCATTTTAACTGAGATTTAAAATTAGAAGTTTAAACCACTATATATAAAGAACTAATCTTTTCTTAATACCAGTTCTTTCCATAGCATATGCTTTGCAAAGGCAGCATGCATAAAATATTTAAAATGAGAGGACAGAATGTTTTC... | benign | 110,576 |
Evaluate if the mutation on chromosome 6 at position 75919434 in MYO6 (myosin VI) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTTCACATTTGATTCAATTTTAATATAATTCCTAATTGTGGTAACACAGTTGAGATATGTATTATGAGTTATGGGAACTAATTGAGAAAAGGAAGTTACTCTAATCCACGTATGTTAAGAGAATATTGAGTTTTCTTAGTTGTAAAGTTGGGGAGATGGCACCTTCTCAGAGGATTGTGAAAATATGAGGAAGAAACAAAACAGTGCATGTAGGAGCACAGGGCCACACAAAGGCATTCTATTGTTATGCTCATTCTGCTTCTGTAATGACTTTTCATAGGTCATTCTTGTGAACCATTTTGTTTTGCAAGCAACCAAG... | TTTTCACATTTGATTCAATTTTAATATAATTCCTAATTGTGGTAACACAGTTGAGATATGTATTATGAGTTATGGGAACTAATTGAGAAAAGGAAGTTACTCTAATCCACGTATGTTAAGAGAATATTGAGTTTTCTTAGTTGTAAAGTTGGGGAGATGGCACCTTCTCAGAGGATTGTGAAAATATGAGGAAGAAACAAAACAGTGCATGTAGGAGCACAGGGCCACACAAAGGCATTCTATTGTTATGCTCATTCTGCTTCTGTAATGACTTTTCATAGGTCATTCTTGTGAACCATTTTGTTTTGCAAGCAACCAAG... | benign | 110,580 |
Is the variant located on chromosome 6 at position 75950957, gene IMPG1 (interphotoreceptor matrix proteoglycan 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Vitelliform_macular_dystrophy_4'] | TACCAATGACCCAGCTTTGACCATGTGAATGAGGAAATGCCCTTGGTATTGGCAGAGCTATAGGATGGAAGAAGTGTGGGTCCCTGAATGGCATCATAGAGCTAAGCTGTCCTACCCATCAAGTGAAAGAGAAATAAACTTGTACTGAATGAAAGTCACTATATTCTTACCTCTTCATTATGGCAGCTTAGCATGAACCCTAATTAACATGCCATGGTTAGTTTGTCAGAGGCAGGTGAACCAGCACAACTCCATCTTGAATAGGAGCTGGGTAAAATGAGGCTGAAACCTACTGGGCTGCATTCCCAGACAGTTAAGTC... | TACCAATGACCCAGCTTTGACCATGTGAATGAGGAAATGCCCTTGGTATTGGCAGAGCTATAGGATGGAAGAAGTGTGGGTCCCTGAATGGCATCATAGAGCTAAGCTGTCCTACCCATCAAGTGAAAGAGAAATAAACTTGTACTGAATGAAAGTCACTATATTCTTACCTCTTCATTATGGCAGCTTAGCATGAACCCTAATTAACATGCCATGGTTAGTTTGTCAGAGGCAGGTGAACCAGCACAACTCCATCTTGAATAGGAGCTGGGTAAAATGAGGCTGAAACCTACTGGGCTGCATTCCCAGACAGTTAAGTC... | pathogenic | 110,592 |
Regarding the variant found on chromosome 6 at position 76042042 in gene IMPG1 (interphotoreceptor matrix proteoglycan 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | GTAGCAACAAGAACAGTAAGTGGGTCTCTCTGTCAGAGGAAAACCGCTTTGTAGCTGGGTCTTATTTCTTGTTTCTTTGTGAACCAATTTGTTCGACTTAAGAAACCCATGCTGATGAATAGTAAAATTTCATATTACCTAGGGGCAGCCATAAAGATAATGGACTGTCATTGCTGTGGGGAGAAAAACAATGGTTTGTTTCATCCAGGGAAACAAGAATGAAAGAGGCAACCTAATCAAGAATAAAGAGCTGAGAATAAAAATTCAGAGCTAAAAATTTTGTTGCAGCAATAAATAGGGTATTCCAAATACTTCCAGTG... | GTAGCAACAAGAACAGTAAGTGGGTCTCTCTGTCAGAGGAAAACCGCTTTGTAGCTGGGTCTTATTTCTTGTTTCTTTGTGAACCAATTTGTTCGACTTAAGAAACCCATGCTGATGAATAGTAAAATTTCATATTACCTAGGGGCAGCCATAAAGATAATGGACTGTCATTGCTGTGGGGAGAAAAACAATGGTTTGTTTCATCCAGGGAAACAAGAATGAAAGAGGCAACCTAATCAAGAATAAAGAGCTGAGAATAAAAATTCAGAGCTAAAAATTTTGTTGCAGCAATAAATAGGGTATTCCAAATACTTCCAGTG... | pathogenic | 110,604 |
Chromosome 6, position 78946883, gene PHIP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTTCAAACATAAAGACTTTACAATAAAAACCTGGAGGTGAAAGAACTTGAAGTGTAACAGTAAGGTGTCAAAAGTTGTATTCTACAGTTGTAGACAACCCCAATGAATTATTATTTAGTAAAAGTCAGTCTAGAAAAATAAGTAGTTTTGTGATCCAATAATTACTTAAACATTTTTCTAGAAAAGTGAAGAATGCTACATTGGGTTAACTATACCCTATTTAATTTAAACTTTGAAGATTTATTTCTTTTTTTTTTTTTTCTTTTGAGACAGGGTCTCATTCTGTTTACCAGGATGGAGTGCAGTGGCACAATAATAG... | CTTTCAAACATAAAGACTTTACAATAAAAACCTGGAGGTGAAAGAACTTGAAGTGTAACAGTAAGGTGTCAAAAGTTGTATTCTACAGTTGTAGACAACCCCAATGAATTATTATTTAGTAAAAGTCAGTCTAGAAAAATAAGTAGTTTTGTGATCCAATAATTACTTAAACATTTTTCTAGAAAAGTGAAGAATGCTACATTGGGTTAACTATACCCTATTTAATTTAAACTTTGAAGATTTATTTCTTTTTTTTTTTTTTCTTTTGAGACAGGGTCTCATTCTGTTTACCAGGATGGAGTGCAGTGGCACAATAATAG... | benign | 110,614 |
Located at chromosome 6 position 78954919, the variant affecting gene PHIP—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome'] | TGGTACATATAACAACAGTAATCTTACAAGGAATGTCATCTCTCTTTTTTTTAATGAAGTACAGTACTTCAGAATAATCTATTACTCAAATTTTCAGGGAGAGGGTACTAATATTTTCATTTGTTGTTTCTGTTATCTTATTATGGTAGATCACTCCCTTATATAGGTGTTGTTTTTTTTTTAAATCATTAGTTCATTCAGTTAAGGATTAACATTTTTTCCATAATGGATTTCTACACAAGGGTGGTGCAAATTTGGATTCTAAGTCCATGTATAGTGTAAGTTTAGGAAAATTTCTCCTCTCTGACACTAGAACCACT... | TGGTACATATAACAACAGTAATCTTACAAGGAATGTCATCTCTCTTTTTTTTAATGAAGTACAGTACTTCAGAATAATCTATTACTCAAATTTTCAGGGAGAGGGTACTAATATTTTCATTTGTTGTTTCTGTTATCTTATTATGGTAGATCACTCCCTTATATAGGTGTTGTTTTTTTTTTAAATCATTAGTTCATTCAGTTAAGGATTAACATTTTTTCCATAATGGATTTCTACACAAGGGTGGTGCAAATTTGGATTCTAAGTCCATGTATAGTGTAAGTTTAGGAAAATTTCTCCTCTCTGACACTAGAACCACT... | pathogenic | 110,617 |
Does the variant on chromosome 6 at location 78955659 affecting gene PHIP have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome'] | TAAAGATTTCTCTTCCACATTTAACATTCTATGTTTCTGGCATTTTAAATGACATGAAAAAAGTCATTTTCTGATATTTATCTGTTGATGAAATTTCTTTATTTTCATCATTGTAAGTTAGAACAAAAATTAGCCCGGCTAATTTTTGTACTTTTAGTAGAGACGGGATTTTACCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTAAGACACCACGCCCGACCCCTGAACTATATAACATTTAATTACTTTTTAAAGGGATGAGAAAT... | TAAAGATTTCTCTTCCACATTTAACATTCTATGTTTCTGGCATTTTAAATGACATGAAAAAAGTCATTTTCTGATATTTATCTGTTGATGAAATTTCTTTATTTTCATCATTGTAAGTTAGAACAAAAATTAGCCCGGCTAATTTTTGTACTTTTAGTAGAGACGGGATTTTACCATGTTGGTCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTAAGACACCACGCCCGACCCCTGAACTATATAACATTTAATTACTTTTTAAAGGGATGAGAAAT... | pathogenic | 110,620 |
Chromosome 6, position 78958468, gene PHIP: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome'] | ATTTATGCTTTTTGTCTCTTCTCTGTCAATTAAATTAGACACTGCAGTCAAATTAACATTTTTAAGGCATAGTGTAAAACATGTTATTCTCATGTTAATATACTTTCAACAGCCCCTTGCTCTCAGAGCTTATATTTTAGATTCATATTCAAAGCCACCCACGATGTGGCCCCAACTCAGATTTATAGCACTGTATCTCTACTGTGACTTCTCCAATTTATATTACCCTTAATTAAAACTTCCTACCTCACGCTGCTCCTTATCCCTGGAATGGCTTTCTTTTCATCTAACATTTCCAGAATCTATCAGTATCTACACCT... | ATTTATGCTTTTTGTCTCTTCTCTGTCAATTAAATTAGACACTGCAGTCAAATTAACATTTTTAAGGCATAGTGTAAAACATGTTATTCTCATGTTAATATACTTTCAACAGCCCCTTGCTCTCAGAGCTTATATTTTAGATTCATATTCAAAGCCACCCACGATGTGGCCCCAACTCAGATTTATAGCACTGTATCTCTACTGTGACTTCTCCAATTTATATTACCCTTAATTAAAACTTCCTACCTCACGCTGCTCCTTATCCCTGGAATGGCTTTCTTTTCATCTAACATTTCCAGAATCTATCAGTATCTACACCT... | pathogenic | 110,621 |
Is the genetic variant on chromosome 6, position 78961711, gene PHIP, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome'] | TATTATCAGGTTGGAAAACAGGCAATTTCTAATTCATGTAAGTATTGTCTTTCAAATGTTTTTTTCCTAAATTGGCTACAAAACTAGGGTAATGCCAAAAGCCTATTTAAAATATAATGTATCTTGAAATACAGATGTTCCTCAACTAACGATGGTGTTACATCCTGATAAACCCACTGTAAATTCAAAATACCATTAAGTCAAAAATGCATGCGATATACTTAACCTAGCAAATATTTTACCTCAGCCAAGCCTACCTCAAATGTGCTCAGAACACTGACATTAGCCTATGGTTGGGCAACATCATATGGCAATCAACT... | TATTATCAGGTTGGAAAACAGGCAATTTCTAATTCATGTAAGTATTGTCTTTCAAATGTTTTTTTCCTAAATTGGCTACAAAACTAGGGTAATGCCAAAAGCCTATTTAAAATATAATGTATCTTGAAATACAGATGTTCCTCAACTAACGATGGTGTTACATCCTGATAAACCCACTGTAAATTCAAAATACCATTAAGTCAAAAATGCATGCGATATACTTAACCTAGCAAATATTTTACCTCAGCCAAGCCTACCTCAAATGTGCTCAGAACACTGACATTAGCCTATGGTTGGGCAACATCATATGGCAATCAACT... | pathogenic | 110,624 |
Is the variant located on chromosome 6 at position 79025518, gene PHIP (PHIP subunit of CUL4-Ring ligase complex), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome', 'PHIP-related_disorder'] | GAATAGGAAAGAATATTACTTATAAATACCTAGAAAAAACTTTGAAGTCCAAAAATAAAAAAATTACTAAGTTGTATATAACAACTCTATTGAACATAATGCAAGCTATTAAAATACATATAAATATCTATGGTAAAATATTAAGAAAACAAAATTATATATATATTCCTAATTATATCTATATAAAAACATTCATGGAGAAAAAATACTGTATTAGGGTAGTGGTTTATATGTGATTCTACATAAAGGTTCTGAAAAAATCATTTATATGGACAAGCTTACTTCTCAAGCATCCAGAAACATGAAATGTTATTGTACTT... | GAATAGGAAAGAATATTACTTATAAATACCTAGAAAAAACTTTGAAGTCCAAAAATAAAAAAATTACTAAGTTGTATATAACAACTCTATTGAACATAATGCAAGCTATTAAAATACATATAAATATCTATGGTAAAATATTAAGAAAACAAAATTATATATATATTCCTAATTATATCTATATAAAAACATTCATGGAGAAAAAATACTGTATTAGGGTAGTGGTTTATATGTGATTCTACATAAAGGTTCTGAAAAAATCATTTATATGGACAAGCTTACTTCTCAAGCATCCAGAAACATGAAATGTTATTGTACTT... | pathogenic | 110,650 |
Does the variant impacting PHIP (PHIP subunit of CUL4-Ring ligase complex) on chromosome 6, position 79042844, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['PHIP-related_behavioral_problems-intellectual_disability-obesity-dysmorphic_features_syndrome'] | CTGAAATCTGTAACTCCAAACCACCAGTAAAAAATTACAAATGAGACTGAATTTAGCAAAACAAATTCTATCACATTCTTAAAAAATAAACATCTTTAGACTTTGGTAAGACCATATAAAATAGTACAGTGCTACTTTTCTTCTCTTAATTGATGTGCTTTCAACTAAAGAAATAACCAACAAGCAGCTTCCTCTTCGCATATTATTCTTGTTCTCTAAATCACATGCCCTTAAAAGAAAGAATCAAATGTCTAGAAAAGGATAGCAATTTTTTTCTGTACAGAGCTGGATAAATATTTTAGGCTTTGCAGGCCATATGT... | CTGAAATCTGTAACTCCAAACCACCAGTAAAAAATTACAAATGAGACTGAATTTAGCAAAACAAATTCTATCACATTCTTAAAAAATAAACATCTTTAGACTTTGGTAAGACCATATAAAATAGTACAGTGCTACTTTTCTTCTCTTAATTGATGTGCTTTCAACTAAAGAAATAACCAACAAGCAGCTTCCTCTTCGCATATTATTCTTGTTCTCTAAATCACATGCCCTTAAAAGAAAGAATCAAATGTCTAGAAAAGGATAGCAATTTTTTTCTGTACAGAGCTGGATAAATATTTTAGGCTTTGCAGGCCATATGT... | pathogenic | 110,659 |
Considering the variant on chromosome 6, location 79078027, involving gene PHIP, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['PHIP-related_disorder'] | AGTTTACTTCCAGCTCCATTCACTTTGGCCAAGAATTGAATGAAAGTAACCCAAATCACTCCTTGAAAATTAACACACGTTCAGTGTGAAAATGAATACACTAATACACTGTTAAATCTCCATTAGATGTATTAAACCTCAGTACCCTTGCTTATTTCAACAGCCTTGAGCGGTTATCAACATCTTATATTAAACCACAAGAGATTTATACACAAAAGTTAGGAAATACACTACATACCAAAAAAAGCGCCATTATAATCATGTCCTGCTTTCACCTCACAAAAGACACTCATTCTAAGCTCGCTGAAACTTCCTAGTCA... | AGTTTACTTCCAGCTCCATTCACTTTGGCCAAGAATTGAATGAAAGTAACCCAAATCACTCCTTGAAAATTAACACACGTTCAGTGTGAAAATGAATACACTAATACACTGTTAAATCTCCATTAGATGTATTAAACCTCAGTACCCTTGCTTATTTCAACAGCCTTGAGCGGTTATCAACATCTTATATTAAACCACAAGAGATTTATACACAAAAGTTAGGAAATACACTACATACCAAAAAAAGCGCCATTATAATCATGTCCTGCTTTCACCTCACAAAAGACACTCATTCTAAGCTCGCTGAAACTTCCTAGTCA... | pathogenic | 110,664 |
Evaluate the clinical significance of the mutation at chromosome 6, position 79487367 in gene LCA5 (lebercilin LCA5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Leber_congenital_amaurosis_5'] | TGGCAGAAAAATTAGCAGCTAGGAACAAAATTAACATTACATAATATTTTACCAATAACTGCATTACAAATAATATTGTTTTACATATATTAGAATGATTTGCAACATATTATAGTAAATGGTTATACATATCAGACATACAAATCTATTAAGAAAACTTTTTAATATAGTTTAGCACTTTTGAGAGATTCTGTTCCCAATAAATGAAAGGAACACAATTTAGAAGATGACAGGTGGTACATCTTTTAATTGGAGACCTAACCAGGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAA... | TGGCAGAAAAATTAGCAGCTAGGAACAAAATTAACATTACATAATATTTTACCAATAACTGCATTACAAATAATATTGTTTTACATATATTAGAATGATTTGCAACATATTATAGTAAATGGTTATACATATCAGACATACAAATCTATTAAGAAAACTTTTTAATATAGTTTAGCACTTTTGAGAGATTCTGTTCCCAATAAATGAAAGGAACACAATTTAGAAGATGACAGGTGGTACATCTTTTAATTGGAGACCTAACCAGGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAA... | pathogenic | 110,671 |
Determine if the mutation at chromosome 6, position 79487546 in gene LCA5 (lebercilin LCA5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_5', 'Retinal_dystrophy'] | TTTGAGAGATTCTGTTCCCAATAAATGAAAGGAACACAATTTAGAAGATGACAGGTGGTACATCTTTTAATTGGAGACCTAACCAGGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGT... | TTTGAGAGATTCTGTTCCCAATAAATGAAAGGAACACAATTTAGAAGATGACAGGTGGTACATCTTTTAATTGGAGACCTAACCAGGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGT... | pathogenic | 110,673 |
For chromosome 6, position 79487631, gene LCA5 (lebercilin LCA5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Leber_congenital_amaurosis_5'] | GGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAG... | GGTAAGTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAG... | pathogenic | 110,674 |
Is the genetic mutation found on chromosome 6 at position 79487636, within the gene LCA5 (lebercilin LCA5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | GTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAA... | GTCTTGACAAATAGTCATGCAATGAAATTCAATAATATGCATTTATAAGAACTCAGAATAACACAGTAACTCCTTCCCCTCATCAGTATATATGACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAA... | pathogenic | 110,675 |
The mutation impacting LCA5 (lebercilin LCA5) on chromosome 6 at position 79487729: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_5'] | GACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAAGTGAATTACAAACAGCCAAAAGACCAATGCATTTAAACAGAAAACTATCCACTCTAGTCAACAAGGCAGAAGTCCTATGTCTGAAACACTTCT... | GACTGGCGTCAGAAATCATACTACGAGCAAATGCTAGTAAATTCTTGAAAAAAACAGCTCACTTTAGAATAAGTGCCAATCTAAATTTTTTATTCTTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAAGTGAATTACAAACAGCCAAAAGACCAATGCATTTAAACAGAAAACTATCCACTCTAGTCAACAAGGCAGAAGTCCTATGTCTGAAACACTTCT... | pathogenic | 110,678 |
Classify the chromosome 6 variant at position 79487824 affecting gene LCA5 (lebercilin LCA5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_5'] | TTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAAGTGAATTACAAACAGCCAAAAGACCAATGCATTTAAACAGAAAACTATCCACTCTAGTCAACAAGGCAGAAGTCCTATGTCTGAAACACTTCTATTCAAAGTTGCTTTAAAACTAATCCTGTAAGTCCAATAGTATTACACTATTGTTGTCTCCTTGGTTTGAGGACAAGTTCAAATCTTAAAAGCAT... | TTCCCAACACACTATTTCCACCACTCTTCATTTTAACAATGTTTTCTCCTTGGGCTGGTGGTATATTACTGCTTTTTAAAGACCAATCATACCCAGCATGATCCAAGGTCATCAACTTCTCTATAAGCTGAAGTGAATTACAAACAGCCAAAAGACCAATGCATTTAAACAGAAAACTATCCACTCTAGTCAACAAGGCAGAAGTCCTATGTCTGAAACACTTCTATTCAAAGTTGCTTTAAAACTAATCCTGTAAGTCCAATAGTATTACACTATTGTTGTCTCCTTGGTTTGAGGACAAGTTCAAATCTTAAAAGCAT... | pathogenic | 110,679 |
Variant on chromosome 6, at position 79489163, affecting LCA5 (lebercilin LCA5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_5', 'Retinal_dystrophy'] | TTCACTGAGGAAAAAGCCTTCATCTTCATCATGTTCTTGATCTCTGCTGCCTTTATTCCCAGGGAGAAAATTTAGAGGGTCAATGTCTCCTTTACTGGAAGCCACAGAATTTGGGTCACTGCTTTTGGAGGAAATGGTGCTGCTACCACTGGCACCAAATAACTGTTCCATCAAATTAGCTTTTTTCTCTTTTCTTGTAATTAAATCTACACCATCTTTACTAAGTTTTTCCATACTGTTTCTTTGGAAATCCAAAAAACTACTTTTTTGACTAAATGGATTTGACCTCTCTGATGTTTTTGCAAACGAAGGCACGTAGC... | TTCACTGAGGAAAAAGCCTTCATCTTCATCATGTTCTTGATCTCTGCTGCCTTTATTCCCAGGGAGAAAATTTAGAGGGTCAATGTCTCCTTTACTGGAAGCCACAGAATTTGGGTCACTGCTTTTGGAGGAAATGGTGCTGCTACCACTGGCACCAAATAACTGTTCCATCAAATTAGCTTTTTTCTCTTTTCTTGTAATTAAATCTACACCATCTTTACTAAGTTTTTCCATACTGTTTCTTTGGAAATCCAAAAAACTACTTTTTTGACTAAATGGATTTGACCTCTCTGATGTTTTTGCAAACGAAGGCACGTAGC... | pathogenic | 110,681 |
Variant in LCA5 (lebercilin LCA5), chromosome 6, position 79491617—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Leber_congenital_amaurosis_5'] | TTCGCCAACTATGTGCATCAAGTGAGATGCTGTTGAACTATAACATGAGCAGTGACAATATTATGTCCAACCCCCAATTAATATATTTTATAATATTCAAATCAAATAAAAATGTTACAAACTTAAAATTCCTTGTTTCCTATGGTAACGTTCAAATATATGGGTGTGTGATTTTTCTTAATAAAAGTGAAATATCTATTATTAGTAAAGACTTGTCTAGTATCCATTTTCATCTTCTCCCTTTTAGTAATGGAATCCTTTGAGTTTTAGCAGGACAGAGAGCTGCTTAGCTGGAGACTACATTTGCTACCCTCCCTTGC... | TTCGCCAACTATGTGCATCAAGTGAGATGCTGTTGAACTATAACATGAGCAGTGACAATATTATGTCCAACCCCCAATTAATATATTTTATAATATTCAAATCAAATAAAAATGTTACAAACTTAAAATTCCTTGTTTCCTATGGTAACGTTCAAATATATGGGTGTGTGATTTTTCTTAATAAAAGTGAAATATCTATTATTAGTAAAGACTTGTCTAGTATCCATTTTCATCTTCTCCCTTTTAGTAATGGAATCCTTTGAGTTTTAGCAGGACAGAGAGCTGCTTAGCTGGAGACTACATTTGCTACCCTCCCTTGC... | pathogenic | 110,683 |
The mutation in gene LCA5 (lebercilin LCA5) at chromosome 6, position 79492552—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leber_congenital_amaurosis_5'] | TGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTGC... | TGTATACTGTAAAAAGACCTATATTTTAGTCCTTTTAAAGTTAACAATTACTTTGTTATTCCTCACTTTGTGATTTCAAAAAGACAAATCAACATGATCTAGTCTCAATGACAGCACAAATACAGAAACACAACTTAGCGGATACAACTAACTTGTCTGAATTATCAAACAAAAATAAATAAACAAATAAAAAACTAGAATATACACAGAAATCAAATCAGTTCATCCTTTCTGTTTTATACCTCAAGAAGAGACCTCAGGGTCACTGGGAAACTTATAAGGTATAAAAATATACCATTGTATGAAATATGCTAGGTTGC... | pathogenic | 110,687 |
Does the genetic variant at chromosome 6, position 79493716, impacting gene LCA5 (lebercilin LCA5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_5'] | TGAAGTCTTCCATGGTTTGTACTCCTTTTGTACACAGGTCTGCAAAATCACTCTGGCATGCAGCTACAGTGAAAATTATTTTTAAAAAATTATTACAATGAATAATGCTAAAATATATGGAATTCAGCTGGCATGTATATATATATATGCATGTGTGTTTGCATATACATGTACATTTATATGCACCACTTCATTTAAATGGAGAATATATATATTCACCTATATATATTCACCATATAAATATAATGCATGTTTTGCTCAGCTTGGTTAATACTCACTATTACTATTTTTGTTTCTAGGATTTACTGGCAATTATATGA... | TGAAGTCTTCCATGGTTTGTACTCCTTTTGTACACAGGTCTGCAAAATCACTCTGGCATGCAGCTACAGTGAAAATTATTTTTAAAAAATTATTACAATGAATAATGCTAAAATATATGGAATTCAGCTGGCATGTATATATATATATGCATGTGTGTTTGCATATACATGTACATTTATATGCACCACTTCATTTAAATGGAGAATATATATATTCACCTATATATATTCACCATATAAATATAATGCATGTTTTGCTCAGCTTGGTTAATACTCACTATTACTATTTTTGTTTCTAGGATTTACTGGCAATTATATGA... | pathogenic | 110,696 |
Clinical classification of chromosome 6, position 79493720, gene LCA5 (lebercilin LCA5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_5'] | GTCTTCCATGGTTTGTACTCCTTTTGTACACAGGTCTGCAAAATCACTCTGGCATGCAGCTACAGTGAAAATTATTTTTAAAAAATTATTACAATGAATAATGCTAAAATATATGGAATTCAGCTGGCATGTATATATATATATGCATGTGTGTTTGCATATACATGTACATTTATATGCACCACTTCATTTAAATGGAGAATATATATATTCACCTATATATATTCACCATATAAATATAATGCATGTTTTGCTCAGCTTGGTTAATACTCACTATTACTATTTTTGTTTCTAGGATTTACTGGCAATTATATGATTTG... | GTCTTCCATGGTTTGTACTCCTTTTGTACACAGGTCTGCAAAATCACTCTGGCATGCAGCTACAGTGAAAATTATTTTTAAAAAATTATTACAATGAATAATGCTAAAATATATGGAATTCAGCTGGCATGTATATATATATATGCATGTGTGTTTGCATATACATGTACATTTATATGCACCACTTCATTTAAATGGAGAATATATATATTCACCTATATATATTCACCATATAAATATAATGCATGTTTTGCTCAGCTTGGTTAATACTCACTATTACTATTTTTGTTTCTAGGATTTACTGGCAATTATATGATTTG... | pathogenic | 110,697 |
A mutation at chromosome position 79513292 on chromosome 6 in gene LCA5 (lebercilin LCA5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy'] | GTCCTTCAACAGATGTACCATAATACTCCATAGTACATCCATACCATGGAATACTCAGGGAGAAAGGAACTATTGATATATGCAACCATTTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGA... | GTCCTTCAACAGATGTACCATAATACTCCATAGTACATCCATACCATGGAATACTCAGGGAGAAAGGAACTATTGATATATGCAACCATTTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGA... | pathogenic | 110,700 |
Does the genetic variant at chromosome 6, position 79513357, impacting gene LCA5 (lebercilin LCA5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_5'] | GGAACTATTGATATATGCAACCATTTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGA... | GGAACTATTGATATATGCAACCATTTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGA... | pathogenic | 110,701 |
Assess the variant on chromosome 6, position 79513381, impacting LCA5 (lebercilin LCA5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Leber_congenital_amaurosis'] | TTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTAT... | TTGAGTGAATGTATAAGCAAAATCTGCTAATGTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTAT... | pathogenic | 110,702 |
Is the genetic change at chromosome 6, position 79513412, within gene LCA5 (lebercilin LCA5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_5', 'Retinitis_pigmentosa'] | GTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTATCACGACCAATTTCCTGGTTGTAATATTATAG... | GTCAAAAGGTTAGATACTGTGTGATTCCATTTATATAACATTCTTGAAATGACAAAATTAGAGAAATAATGAGCAAATTAGCTGATGTCATAGGTTAGTGAGGGGAAGGCAGGAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTATCACGACCAATTTCCTGGTTGTAATATTATAG... | pathogenic | 110,703 |
Variant on chromosome 6, at position 79513524, affecting LCA5 (lebercilin LCA5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_5'] | GAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTATCACGACCAATTTCCTGGTTGTAATATTATAGTTACACTATATATTTTTTACAACTGCATGTCAATTTACAATGAACTCAAAATAAAAATTTTAAAAACTTCCAATATGAAAAAAAATGAGGATACAATATGGTTAACTACTTC... | GAGGTAGCTGTGGCTGTAAAATGGTAAAATACAAGGGATTCTTGTGATGGAATTGGTCTATATCTTGATTATGTTGGTAGTCACACGAATCTATACATGTGATGAAACTGCACAGAACTAAATACACACACACGTAAAACTAGTGAAAGCTGAGTGCAGTTGATGAACTCTATGTATCACGACCAATTTCCTGGTTGTAATATTATAGTTACACTATATATTTTTTACAACTGCATGTCAATTTACAATGAACTCAAAATAAAAATTTTAAAAACTTCCAATATGAAAAAAAATGAGGATACAATATGGTTAACTACTTC... | pathogenic | 110,704 |
Chromosome 6, position 79518849, gene LCA5 (lebercilin LCA5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_5'] | AAATAATATGACTCTTTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATT... | AAATAATATGACTCTTTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATT... | pathogenic | 110,711 |
Benign or pathogenic: chromosome 6, position 79518857, gene LCA5 (lebercilin LCA5) variant? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_5'] | TGACTCTTTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTT... | TGACTCTTTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTT... | pathogenic | 110,712 |
Chromosome 6, position 79518864, gene LCA5 (lebercilin LCA5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_5'] | TTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAA... | TTTTTTAACATAGTAAAAATAAATTATGCATCCACCAAAAAAATCAAGATATGTTAATATTATTGAAAAAACAAATAATGGAATAATATATAATAAATGAACATGTATAACCAAAACTTATTAAATTTTACCATGAAAAATTTTGATACTGCATGAATTTTATGCAAAAAAAAGTAAAGTATGCTGAAAATTAAGGAAGGGGAAGGAAGAATATGCTATCAAACACGCAAACCCGAAAATTCGTTTAAAATGCTGTTTGAATCACATTTGTTTTGTCCCTAGGTTAGTCTATACTGATTGCAATTTAGTGTTTACAGAAA... | pathogenic | 110,713 |
Determine if the mutation at chromosome 6, position 79916758 in gene ELOVL4 (ELOVL fatty acid elongase 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Stargardt_disease_3'] | TATAAGAAATTAGCAGCAGAAAACAATTTAGAATTAACTAAATCAAATAAACATCTAGCAGACAGTTTACATTATAATAAACTGATTAACAAAAAAAAATCATATTTTTCCCACAGCAGAAGTATATTTATTGTGCTGAAATCAGGTAGCAGGGAATGAATAGCTCTTGGGAACCAGTACAGAATGTTCACAAAGATTTACAAATCTCAGTCATTACACACTGAGCAACAAAACAAAGGTGTTGAATCCTCTTAGATCAAACTACTTTATATGTTGCAAATTTTCTGTAATTCTCATGACTGCATGCCTTTGGGGAAAAA... | TATAAGAAATTAGCAGCAGAAAACAATTTAGAATTAACTAAATCAAATAAACATCTAGCAGACAGTTTACATTATAATAAACTGATTAACAAAAAAAAATCATATTTTTCCCACAGCAGAAGTATATTTATTGTGCTGAAATCAGGTAGCAGGGAATGAATAGCTCTTGGGAACCAGTACAGAATGTTCACAAAGATTTACAAATCTCAGTCATTACACACTGAGCAACAAAACAAAGGTGTTGAATCCTCTTAGATCAAACTACTTTATATGTTGCAAATTTTCTGTAATTCTCATGACTGCATGCCTTTGGGGAAAAA... | pathogenic | 110,722 |
The mutation in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) at chromosome 6, position 80106706—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | ACCAGGCAAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTC... | ACCAGGCAAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTC... | pathogenic | 110,739 |
Does the variant on chromosome 6 at location 80106713 affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | AAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCAT... | AAATGGTGTGGTAGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCAT... | pathogenic | 110,741 |
Regarding the variant at chromosome 6 and position 80106725, affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_1B'] | AGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTA... | AGAGATGGGGAAAATTTAAAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTA... | pathogenic | 110,743 |
Clinically, how would you classify the variant at chromosome 6, position 80106743, gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | AAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGG... | AAAAATCAGTTTGCAAAACAGGTGAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGG... | pathogenic | 110,744 |
The chromosome 6, position 80106766 genetic variant in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1B'] | GAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGA... | GAATCTGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGA... | pathogenic | 110,746 |
The mutation in gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) at chromosome 6, position 80106771—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maple_syrup_urine_disease'] | TGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTA... | TGGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTA... | pathogenic | 110,747 |
Classify the chromosome 6 variant at position 80106772 affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_1B'] | GGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTAT... | GGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTAT... | pathogenic | 110,748 |
Does the variant on chromosome 6 at location 80106772 affecting gene BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A', 'Maple_syrup_urine_disease_type_1B'] | GGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTAT... | GGCAGGTGCTCTGTTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTAT... | pathogenic | 110,749 |
The mutation impacting BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) on chromosome 6 at position 80106785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maple_syrup_urine_disease'] | TTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTG... | TTTGTTTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTG... | pathogenic | 110,750 |
Gene mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) at chromosome 6, position 80106790—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A'] | TTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCA... | TTTTCCTGGCTGCATGTAGTTGAAAGTTCAAACCTCTTAGACCTTCAAAATCTCCCTTTAATCTGTTTTTCCTACTTTTTCTGTTAACCCTGTATCATTCCCTACACCCTGAATCTAGAAGCACCAAGCTATTTTCTCTTCCTGGAATGCACTGTGCTCTTCATGCCTATCAGCCTTTATACAGGTTTCTTCTTAGTTTGGAATGCCATTTTCTCCCTAGTCTGCCTGGTAACTTCTAGTCATCTTTTAGGTCTAGCTCAGAGTTATATCTGGAAACACTTGACTTTCAAATAAGAGTTTATTGCTCTTTTTGTGTTTCA... | pathogenic | 110,751 |
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