question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The genetic variant at chromosome 3, position 33016717, affecting gene GLB1 (galactosidase beta 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | GGCACCAAGAAAGATGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCT... | GGCACCAAGAAAGATGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCT... | pathogenic | 63,452 |
Is chromosome 3, position 33016721, gene GLB1 (galactosidase beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | CCAAGAAAGATGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTAC... | CCAAGAAAGATGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTAC... | pathogenic | 63,453 |
Considering the genetic mutation at chromosome 3, position 33018495, impacting GLB1 (galactosidase beta 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGG... | TCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTTCTCTACCAGAAGG... | pathogenic | 63,464 |
A genetic variant at chromosome 3, position 33021623, affecting gene GLB1 (galactosidase beta 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TCCTGTGTTGCAGGAATGAGCTGAGCACAAGAAATGCTACTAAGACCACACAAACCTTCTAGCGCAAGAACACCTCCCGCCCAGGCTCCACATCTCCATCTCCTTCTGGTTCATTTATTTACTTATTTTGAAAACTAGCTAAAGTGGTAAGTTTCCTCAAGGGCTGAGGAAAGCTTTGTCAAGGGCTTCCAGAAGGAGGGGTAGAAGCTGTGATGCTCCCCAGGCAGGTGTGGCTGAGGCTCAGGGGATCCCTGCAGAGACAGTAGGCTGAGCCCCACTCCCTGAAGTCTGTGCCCTTTGGGGTTTTTTGCTGGAAATAG... | TCCTGTGTTGCAGGAATGAGCTGAGCACAAGAAATGCTACTAAGACCACACAAACCTTCTAGCGCAAGAACACCTCCCGCCCAGGCTCCACATCTCCATCTCCTTCTGGTTCATTTATTTACTTATTTTGAAAACTAGCTAAAGTGGTAAGTTTCCTCAAGGGCTGAGGAAAGCTTTGTCAAGGGCTTCCAGAAGGAGGGGTAGAAGCTGTGATGCTCCCCAGGCAGGTGTGGCTGAGGCTCAGGGGATCCCTGCAGAGACAGTAGGCTGAGCCCCACTCCCTGAAGTCTGTGCCCTTTGGGGTTTTTTGCTGGAAATAG... | pathogenic | 63,473 |
Classify the chromosome 3 variant at position 33024251 affecting gene GLB1 (galactosidase beta 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AGGATAAGATATGTTCCATTCTCAGCCCCAATGCCCAGAACATAGTAAATGCCTGGTAAGTATTTATTATATTCAATACAAAGGATTGTGTATTCTTGCAACCCAGGATACTTATTCTGATGCAATAACAACAATAATAATAACAGCTACCAGTCATTGCCTGTCTACACACTCCAGATGAGATACAGCGTTTTACATGCACTAGCTCATTGAATACTCACAGCTACCCTGTGAGGCAGGTACTACTGTCCCTGTGTTGTGGAGACTCACAGAAGTCCACTTGAGTAATGACAGAGCCAGGATTTGTAGTTAGATTTGGC... | AGGATAAGATATGTTCCATTCTCAGCCCCAATGCCCAGAACATAGTAAATGCCTGGTAAGTATTTATTATATTCAATACAAAGGATTGTGTATTCTTGCAACCCAGGATACTTATTCTGATGCAATAACAACAATAATAATAACAGCTACCAGTCATTGCCTGTCTACACACTCCAGATGAGATACAGCGTTTTACATGCACTAGCTCATTGAATACTCACAGCTACCCTGTGAGGCAGGTACTACTGTCCCTGTGTTGTGGAGACTCACAGAAGTCCACTTGAGTAATGACAGAGCCAGGATTTGTAGTTAGATTTGGC... | pathogenic | 63,478 |
Does the chromosome 3 mutation at position 33024316 within gene GLB1 (galactosidase beta 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['GM1_gangliosidosis', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | ATTATATTCAATACAAAGGATTGTGTATTCTTGCAACCCAGGATACTTATTCTGATGCAATAACAACAATAATAATAACAGCTACCAGTCATTGCCTGTCTACACACTCCAGATGAGATACAGCGTTTTACATGCACTAGCTCATTGAATACTCACAGCTACCCTGTGAGGCAGGTACTACTGTCCCTGTGTTGTGGAGACTCACAGAAGTCCACTTGAGTAATGACAGAGCCAGGATTTGTAGTTAGATTTGGCTCCAAACCCCAGGATTTTCCATGACTATAATACTGGTTAGGATTTTTTTTTTTTTTTTTTTGAGA... | ATTATATTCAATACAAAGGATTGTGTATTCTTGCAACCCAGGATACTTATTCTGATGCAATAACAACAATAATAATAACAGCTACCAGTCATTGCCTGTCTACACACTCCAGATGAGATACAGCGTTTTACATGCACTAGCTCATTGAATACTCACAGCTACCCTGTGAGGCAGGTACTACTGTCCCTGTGTTGTGGAGACTCACAGAAGTCCACTTGAGTAATGACAGAGCCAGGATTTGTAGTTAGATTTGGCTCCAAACCCCAGGATTTTCCATGACTATAATACTGGTTAGGATTTTTTTTTTTTTTTTTTTGAGA... | pathogenic | 63,479 |
A mutation at chromosome position 33051914 on chromosome 3 in gene GLB1 (galactosidase beta 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | ATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACA... | ATAGTATTAAAATTGATAATGCTTGTAAGCGATGTCTTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACA... | pathogenic | 63,495 |
Classify the chromosome 3 variant at position 33051950 affecting gene GLB1 (galactosidase beta 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTT... | TTCTCCTAGCCCATCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTT... | pathogenic | 63,497 |
The mutation impacting GLB1 (galactosidase beta 1) on chromosome 3 at position 33051963: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTA... | TCTCAGCCTGCAAAAAAGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTA... | pathogenic | 63,499 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 33051979, gene GLB1 (galactosidase beta 1): what disease(s) if pathogenic? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAAC... | AGATAGCAGTTCAAAGGAGAAACTTCATTAAGAGCTGATAGTATCCAATTTCAGATCCTGAGAGATTTAGGCCCAAACTAAGCCTTCAAAACTCAACAGCTGGGCATCCTCCATGATTCAGAGAGAAAAATGCAAATAAAGAGACAGGTGGGAAATGAAGCTTAGCGAAAAGCCAGTACAGCATCATCTGTCTTTGCAAAAAAACAACAAAAATCAAAGACGTTACAGAAAAATTTTGTCATAATTTTTCCTACACAAAAAAATACAGAAATGTAAAGTGGTGTGGCCTTTTTGGGAAACACTATGGCAGTTCCTGAAAC... | pathogenic | 63,501 |
Considering the variant on chromosome 3, location 33053477, involving gene GLB1 (galactosidase beta 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TCTACTAAAAATGCAAAAACTTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAG... | TCTACTAAAAATGCAAAAACTTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCATAATCCCAGCTACTTGGAGGCTGAGGCAGGAGGATCCCTTGAACCTGGGAGGTGGAGGCTGCAGTGAGTTGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTACAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAATTTAGGAGAGGATAAACAAAAAAAGGAAAATAAAATTGTCTGTGGGCACACCCCTCCTCAAATTAATCAACAGAAACATTCTAGCATAAGTTTCTACAGATATTAAAG... | pathogenic | 63,506 |
Is the chromosome 3, position 33058122 variant in GLB1 (galactosidase beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAA... | AAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAA... | pathogenic | 63,520 |
Gene mutation in GLB1 (galactosidase beta 1) at chromosome 3, position 33058127—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGT... | TTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCCAGGATCGGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGT... | pathogenic | 63,521 |
Determine if the mutation at chromosome 3, position 33058230 in gene GLB1 (galactosidase beta 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | GGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCGCAGCCTTGAA... | GGGTCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAACACCAGGCTAATTTCCTCATTTCAGTCTTCTGTACATCCCTCTTAAGAGAGGCAAACATTGGCTGTGCAATGCACATGAAGTGCCTTTTACCTCAGAGGGGAGAACATCAGGGTCTTTATGCTACTCAAGGAACTGGTCTTTTTTGTGTGTGTGTATCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGCTTGGGGTGCAGTGGCACAATCACAGCTCACCGCAGCCTTGAA... | pathogenic | 63,525 |
Is the genetic change at chromosome 3, position 33065480, within gene GLB1 (galactosidase beta 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AGGAGGAGGAGGAGGGGGACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCA... | AGGAGGAGGAGGAGGGGGACAGAGTCACCTGGCAGGACCCAGGGTCAAGTTAAAGTCATCTGAGGTTGCTAGGGATGGACACAAGAAGAAATATCTCCACACAGTCAACTTCATTCTCCTTTGCAGAATTAATACTTGATTATACTTTTTGTGGCATTTCCAAAACCAAAAGGGGCAGAAAAGTTGTGAGCAGAAATTGAAAGTGATTCAAGGAGAGGCAGAGACTGAAAAAAAGAGGGCATCAAAAGAGGGTTTGCACCTGAGGCCAGAAGAAAGGAAGAAGACACAGCCATGCAGAGCAAAGACGCACCCAAGTTTCA... | pathogenic | 63,534 |
Clinically, how would you classify the variant at chromosome 3, position 33068246, gene GLB1 (galactosidase beta 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | CTGAAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTC... | CTGAAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTC... | pathogenic | 63,543 |
Classify the chromosome 3 variant at position 33068249 affecting gene GLB1 (galactosidase beta 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTCCAT... | AAACTCATGTTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTCCAT... | pathogenic | 63,545 |
Is the chromosome 3, position 33068258 variant in GLB1 (galactosidase beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GM1_gangliosidosis', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTCCATAACTGTAGG... | TTGAAATCGAATCCCCAATGTGGTAGTATTGAGAGGTGGGGCCTTTAAGAGGTGTTGAGTCATGAGGGCTCAGCCCTCATAAGTAGATCAATCCACTCATGGATTAATAGATTAATAGGTTAATGGATTCATGGGTCATCATGGGAATGGGACTGGTGGCTTTATAAGAAGAGGGAGAGAGATCTGAGCTAGGACACTCAGCCCCCTCACCATGTGATGCCCTGTGCCCCCTCAGGACTCTGCAGAGTCCCCACCAGCAAGAAGGCCCTCACCAGATATAGCCCCTCCACCTTGAACTTCTTGGCCTCCATAACTGTAGG... | pathogenic | 63,546 |
Is the genetic change at chromosome 3, position 33097008, within gene GLB1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Inborn_genetic_diseases', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | CAGCACTTTGGGAGGCCGAGGCAGGCAGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAA... | CAGCACTTTGGGAGGCCGAGGCAGGCAGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAA... | pathogenic | 63,576 |
Considering the variant on chromosome 3, location 33097009, involving gene GLB1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AGCACTTTGGGAGGCCGAGGCAGGCAGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAAT... | AGCACTTTGGGAGGCCGAGGCAGGCAGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAAT... | pathogenic | 63,577 |
Variant on chromosome 3, at position 33097034, affecting GLB1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | AGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAATTTGAGAACCGCTGGGTCACGAGGTC... | AGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCCAGGCATGGTGGTGGATGCATGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAAGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATATTCTCTTAATTTCTAGGACAGCTAAAATTTAGTTAAAATTTGAGAACCGCTGGGTCACGAGGTC... | pathogenic | 63,578 |
Mutation found at chromosome 3 position 33114090, gene CRTAP: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_7'] | ACCCATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCAT... | ACCCATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCAT... | pathogenic | 63,588 |
Chromosome 3, position 33114093, gene CRTAP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Osteogenesis_imperfecta_type_7'] | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | pathogenic | 63,589 |
Gene CRTAP variant at chromosome 3, position 33114093—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Osteogenesis_imperfecta_type_7'] | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | pathogenic | 63,590 |
Evaluate this variant at chromosome 3, position 33114093, gene CRTAP: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta_type_7'] | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | CATTCATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCG... | pathogenic | 63,591 |
Is the variant located on chromosome 3 at position 33114098, gene CRTAP, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Osteogenesis_imperfecta_type_7'] | ATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCGCAGGT... | ATTCCTCCCTTTCCATAATTCTCAGCAACCACTGATCCTTTTACTGTCTCCATAGTTTTGCCTTTTCCAGAATGTCATTTGGCTGGAATCACACAGTATGTAGCCTTTTCAGTTTGGCTTCTTTCAACCAGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCGCAGGT... | pathogenic | 63,593 |
Benign or pathogenic: chromosome 3, position 33114227, gene CRTAP (cartilage associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_7'] | AGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCGCAGGTGTGTGCATAAGTTTTAACCCATTTGGGTAAATACCAAGAAGTGCAATTTCTGGATTGTATGAGTAGAGTATGCCTAGTTTTGTAAGAAACGGCCCAACTGTCTTCTAAACTGTATGTACCATTTTGCAT... | AGTAATATGCATTTAAGACTTCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTTTGGCTTGGAATAAAATTCCATTGTGTGTATATACCACAGTTTATGTATCCACTTACCCACTGAAGGACATCTTGGTTGATTCCAAGTTATGGTAATTGTGAATAAAGTTGCTACAAACATCCATTCGCAGGTGTGTGCATAAGTTTTAACCCATTTGGGTAAATACCAAGAAGTGCAATTTCTGGATTGTATGAGTAGAGTATGCCTAGTTTTGTAAGAAACGGCCCAACTGTCTTCTAAACTGTATGTACCATTTTGCAT... | pathogenic | 63,594 |
Located at chromosome 3 position 33114394, the variant affecting gene CRTAP (cartilage associated protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Osteogenesis_imperfecta_type_7'] | TGCTACAAACATCCATTCGCAGGTGTGTGCATAAGTTTTAACCCATTTGGGTAAATACCAAGAAGTGCAATTTCTGGATTGTATGAGTAGAGTATGCCTAGTTTTGTAAGAAACGGCCCAACTGTCTTCTAAACTGTATGTACCATTTTGCATTGCCACTATCAATGAATGAGAGTTCCTGTTGCTCCACATCCTTGTCAGCATGTGACGTTGTCAGTGTTTTGGATTTTGTAGTGGTATCTCATTGCTGTTTTGGCCTATATTTTTCAAAAATGACAACGGCATGACAAGAAAAGCCGAGGAACCAGTTTAAAGGATAT... | TGCTACAAACATCCATTCGCAGGTGTGTGCATAAGTTTTAACCCATTTGGGTAAATACCAAGAAGTGCAATTTCTGGATTGTATGAGTAGAGTATGCCTAGTTTTGTAAGAAACGGCCCAACTGTCTTCTAAACTGTATGTACCATTTTGCATTGCCACTATCAATGAATGAGAGTTCCTGTTGCTCCACATCCTTGTCAGCATGTGACGTTGTCAGTGTTTTGGATTTTGTAGTGGTATCTCATTGCTGTTTTGGCCTATATTTTTCAAAAATGACAACGGCATGACAAGAAAAGCCGAGGAACCAGTTTAAAGGATAT... | pathogenic | 63,598 |
Considering the genetic mutation at chromosome 3, position 33124514, impacting CRTAP (cartilage associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_7'] | TGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTGGGGCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAGAGAATTGCCTGAACCCAGGAGTTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCATTCGAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAATCCACTGTCTTTACCTGAGGCCTTAAGCTTGGTGAAAATTCT... | TGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTGGGGCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAGAGAATTGCCTGAACCCAGGAGTTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCATTCGAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAATCCACTGTCTTTACCTGAGGCCTTAAGCTTGGTGAAAATTCT... | pathogenic | 63,613 |
Is the genetic variant on chromosome 3, position 36993540, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAAAACTGCCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTG... | TAAAACTGCCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTG... | pathogenic | 63,658 |
Is the genetic mutation found on chromosome 3 at position 36993552, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAG... | AAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAG... | pathogenic | 63,665 |
Regarding the variant at chromosome 3 and position 36993555, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTT... | TCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTT... | pathogenic | 63,668 |
Clinical classification of chromosome 3, position 36993556, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTA... | CTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTA... | pathogenic | 63,670 |
A genetic variant on chromosome 3, position 36993558, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Lynch_syndrome'] | TTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAAC... | TTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAAC... | pathogenic | 63,671 |
A genetic variant at chromosome 3, position 36993562, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCG... | TTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCG... | pathogenic | 63,675 |
For chromosome 3, position 36993562, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | TTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCG... | TTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCG... | pathogenic | 63,676 |
A genetic variant at chromosome 3, position 36993565, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome'] | TGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAA... | TGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAA... | pathogenic | 63,678 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 36993568—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | ATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTA... | ATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTA... | pathogenic | 63,680 |
Clinical significance of chromosome 3, position 36993568, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTA... | ATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTA... | pathogenic | 63,681 |
Clinical classification of chromosome 3, position 36993572, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAA... | ATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAA... | pathogenic | 63,683 |
A genetic alteration at chromosome 3, position 36993577, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGG... | AAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGG... | pathogenic | 63,690 |
Variant at chromosome 3, position 36993579, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTC... | AGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTC... | pathogenic | 63,692 |
A genetic variant at chromosome 3, position 36993579, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTC... | AGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTC... | pathogenic | 63,693 |
Variant on chromosome 3, at position 36993581, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAA... | ATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAA... | pathogenic | 63,696 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 36993583: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Lynch_syndrome'] | TAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAG... | TAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAG... | pathogenic | 63,697 |
Does the variant on chromosome 3 at location 36993583 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAG... | TAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAG... | pathogenic | 63,699 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 36993584: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGG... | AGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGG... | pathogenic | 63,700 |
Chromosome 3, position 36993584, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGG... | AGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGG... | pathogenic | 63,701 |
Is the genetic mutation found on chromosome 3 at position 36993590, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | TGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAG... | TGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAG... | pathogenic | 63,705 |
Considering the genetic mutation at chromosome 3, position 36993592, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCA... | CCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCA... | pathogenic | 63,709 |
The chromosome 3, position 36993597 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAA... | AGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAA... | pathogenic | 63,710 |
Mutation found at chromosome 3 position 36993597, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAA... | AGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAA... | pathogenic | 63,711 |
Considering the genetic mutation at chromosome 3, position 36993606, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACT... | AGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACT... | pathogenic | 63,716 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 36993609—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | pathogenic | 63,719 |
Does the chromosome 3 mutation at position 36993609 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | pathogenic | 63,721 |
Is the genetic change at chromosome 3, position 36993614, within gene MLH1 (mutL homolog 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTA... | CCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTA... | pathogenic | 63,726 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 36993616—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lynch_syndrome'] | TCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAAT... | TCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAAT... | pathogenic | 63,728 |
A mutation at chromosome position 36993617 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATT... | CACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATT... | pathogenic | 63,729 |
Mutation at chromosome 3, position 36993619, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | CTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCT... | CTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCT... | pathogenic | 63,730 |
Regarding the variant found on chromosome 3 at position 36993621 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | GAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTC... | GAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTC... | pathogenic | 63,732 |
Variant on chromosome 3, at position 36993623, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCAC... | AATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCAC... | pathogenic | 63,735 |
Located at chromosome 3 position 36993624, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | ATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACT... | ATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACT... | pathogenic | 63,736 |
Clinical significance of chromosome 3, position 36993630, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTC... | GCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTC... | pathogenic | 63,740 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 36993640: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGT... | GTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGT... | pathogenic | 63,745 |
Clinical significance of chromosome 3, position 36993645, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | AAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCAT... | AAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCAT... | pathogenic | 63,747 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 36993645, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCAT... | AAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCAT... | pathogenic | 63,748 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 36993651: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... | pathogenic | 63,752 |
Does the variant on chromosome 3 at location 36993651 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_1'] | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... | pathogenic | 63,753 |
For chromosome 3, position 36993671, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAAGCCAAAGTCAC... | TAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAAGCCAAAGTCAC... | benign | 63,768 |
Is chromosome 3, position 36996572, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTT... | GGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTT... | benign | 63,773 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 36996618, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | AAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAA... | AAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAA... | pathogenic | 63,785 |
Is the variant located on chromosome 3 at position 36996622, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTC... | GAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTC... | pathogenic | 63,787 |
Mutation found at chromosome 3 position 36996626, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCC... | AGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCC... | pathogenic | 63,792 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 36996629—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Lynch_syndrome'] | ATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCA... | ATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCA... | pathogenic | 63,795 |
Does the chromosome 3 mutation at position 36996632 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAG... | GGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAG... | pathogenic | 63,796 |
Variant at chromosome 3, position 36996633, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGG... | GAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGG... | pathogenic | 63,799 |
Determine whether the variant at chromosome 3, position 36996634, in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGT... | AAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGT... | pathogenic | 63,801 |
The chromosome 3, position 36996650 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | GGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCC... | GGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCC... | pathogenic | 63,808 |
Located at chromosome 3 position 36996650, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | GGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCC... | GGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCC... | pathogenic | 63,809 |
Evaluate this variant at chromosome 3, position 36996653, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | GCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGC... | GCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGC... | pathogenic | 63,810 |
Assess the variant on chromosome 3, position 36996655, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | pathogenic | 63,812 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 36996655, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | pathogenic | 63,813 |
Clinical significance of chromosome 3, position 36996655, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | pathogenic | 63,814 |
The chromosome 3, position 36996655 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | AAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCT... | pathogenic | 63,815 |
Clinical significance of chromosome 3, position 36996658, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | AACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAG... | AACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAG... | pathogenic | 63,817 |
Evaluate this variant at chromosome 3, position 36996660, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | CCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCC... | CCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCC... | pathogenic | 63,818 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 36996670: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAG... | TTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAG... | pathogenic | 63,822 |
Evaluate if the mutation on chromosome 3 at position 36996676 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGA... | CCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGA... | pathogenic | 63,826 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 36996676—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGA... | CCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGA... | pathogenic | 63,827 |
Does the variant on chromosome 3 at location 36996677 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGAC... | CTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGAC... | pathogenic | 63,828 |
Mutation found at chromosome 3 position 36996691, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... | pathogenic | 63,835 |
Is the genetic mutation found on chromosome 3 at position 36996691, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... | pathogenic | 63,837 |
Chromosome 3, position 36996695, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCA... | AGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCA... | pathogenic | 63,838 |
Evaluate the clinical significance of the mutation at chromosome 3, position 36996696 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCAC... | GTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCAC... | pathogenic | 63,840 |
Determine whether the variant at chromosome 3, position 36996697, in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACA... | TAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACA... | pathogenic | 63,842 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 36996697, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACA... | TAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACA... | pathogenic | 63,843 |
Evaluate if the mutation on chromosome 3 at position 36996698 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | AACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACAC... | AACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACAC... | pathogenic | 63,844 |
For chromosome 3, position 36996700, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCT... | CAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCT... | pathogenic | 63,846 |
Is the chromosome 3, position 36996700 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCT... | CAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCT... | pathogenic | 63,848 |
Is chromosome 3, position 36996706, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Lynch_syndrome'] | CAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAA... | CAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAA... | pathogenic | 63,857 |
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