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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 3, position 37025605, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCA... | CCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCA... | benign | 64,582 |
The chromosome 3, position 37025606 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | benign | 64,584 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37025606: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | benign | 64,585 |
Regarding the variant found on chromosome 3 at position 37025606 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | CAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAG... | benign | 64,586 |
Is the chromosome 3, position 37025607 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGG... | AAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGG... | benign | 64,587 |
Is the genetic mutation found on chromosome 3 at position 37025608, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,588 |
Located at chromosome 3 position 37025608, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,589 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37025608 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,590 |
Clinical significance of chromosome 3, position 37025608, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,592 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37025608, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,593 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37025608 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,594 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025608: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,595 |
Regarding the variant at chromosome 3 and position 37025608, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,596 |
The chromosome 3, position 37025608 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | AATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGA... | benign | 64,597 |
Does the genetic variant at chromosome 3, position 37025609, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGAC... | ATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGAC... | benign | 64,598 |
Benign or pathogenic: chromosome 3, position 37025629, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,604 |
Evaluate this variant at chromosome 3, position 37025629, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,605 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37025629—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,606 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37025629 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,607 |
Determine whether the variant at chromosome 3, position 37025629, in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,608 |
Is the chromosome 3, position 37025629 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | AGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTT... | benign | 64,609 |
Variant on chromosome 3, at position 37025638, 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'] | AGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCAC... | AGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCAC... | pathogenic | 64,619 |
Variant at chromosome position 37025638, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCAC... | AGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCAC... | pathogenic | 64,620 |
A genetic alteration at chromosome 3, position 37025643, 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'] | CTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCA... | CTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCA... | pathogenic | 64,622 |
Assess the variant on chromosome 3, position 37025644, 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'] | TGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAA... | TGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAA... | pathogenic | 64,623 |
Variant at chromosome 3, position 37025644, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | TGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAA... | TGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAA... | pathogenic | 64,624 |
Variant on chromosome 3, at position 37025645, 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'] | GGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAA... | GGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAA... | pathogenic | 64,626 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37025647—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATT... | AGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATT... | pathogenic | 64,627 |
For chromosome 3, position 37025657, 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'] | CTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGC... | CTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGC... | pathogenic | 64,631 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37025665, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCA... | CCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCA... | pathogenic | 64,636 |
Regarding the variant found on chromosome 3 at position 37025666 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | CCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAA... | CCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAA... | pathogenic | 64,639 |
Variant at chromosome position 37025681, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAG... | CCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAG... | pathogenic | 64,644 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37025686 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAA... | AGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAA... | pathogenic | 64,645 |
Variant chromosome 3, position 37025697, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAA... | TTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAA... | pathogenic | 64,648 |
Considering the variant on chromosome 3, location 37025702, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | ATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTG... | ATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTG... | pathogenic | 64,651 |
Does the chromosome 3 mutation at position 37025724 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lynch_syndrome'] | ACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCC... | ACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCC... | pathogenic | 64,654 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025726: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTA... | ATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTA... | pathogenic | 64,656 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37025728—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAA... | GTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAA... | pathogenic | 64,658 |
The genetic variant at chromosome 3, position 37025730, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGC... | TCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGC... | pathogenic | 64,659 |
Does the genetic variant at chromosome 3, position 37025742, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Lynch_syndrome'] | AAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTA... | AAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTA... | pathogenic | 64,663 |
Assess the variant on chromosome 3, position 37025746, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lynch_syndrome'] | CCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAAC... | CCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAAC... | pathogenic | 64,665 |
Chromosome 3, position 37025747, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACA... | CGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACA... | pathogenic | 64,666 |
Is chromosome 3, position 37025763, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGA... | CTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGA... | pathogenic | 64,671 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025767: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTAT... | GGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTAT... | pathogenic | 64,675 |
Does the chromosome 3 mutation at position 37025778 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'] | GAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGA... | GAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGA... | pathogenic | 64,678 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37025779: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAG... | AGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAG... | pathogenic | 64,679 |
Evaluate if the mutation on chromosome 3 at position 37025787 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAAC... | TTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAAC... | pathogenic | 64,680 |
Clinical significance of chromosome 3, position 37025800, 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', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | ATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAAT... | ATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAAT... | pathogenic | 64,685 |
Considering the genetic mutation at chromosome 3, position 37025804, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | AAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATAT... | AAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATAT... | pathogenic | 64,687 |
For chromosome 3, position 37025807, 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', 'Lynch_syndrome'] | CATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACA... | CATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACA... | pathogenic | 64,688 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025808: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | ATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACAT... | ATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACAT... | pathogenic | 64,690 |
The chromosome 3, position 37025814 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | AACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAA... | AACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAA... | pathogenic | 64,694 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025815: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Lynch_syndrome'] | ACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAAT... | ACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAAT... | pathogenic | 64,696 |
Mutation found at chromosome 3 position 37025828, 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'] | ATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGT... | ATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGT... | pathogenic | 64,701 |
Chromosome 3, position 37025836, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATAT... | ACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATAT... | pathogenic | 64,704 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37025846, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTAT... | GTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTAT... | pathogenic | 64,707 |
Determine if the mutation at chromosome 3, position 37025848 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATAT... | CTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATAT... | pathogenic | 64,708 |
Variant chromosome 3, position 37025852, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | ACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAG... | ACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAG... | pathogenic | 64,710 |
Considering the genetic mutation at chromosome 3, position 37025858, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | TGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATG... | TGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATG... | pathogenic | 64,711 |
Is chromosome 3, position 37025885, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTT... | GGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTT... | pathogenic | 64,720 |
Does the chromosome 3 mutation at position 37025902 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'] | TCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTT... | TCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTT... | pathogenic | 64,725 |
Benign or pathogenic: chromosome 3, position 37025904, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTG... | TTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTG... | pathogenic | 64,726 |
Evaluate this variant at chromosome 3, position 37025923, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | CAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATA... | CAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATA... | pathogenic | 64,732 |
Variant on chromosome 3, at position 37025924, 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'] | AGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAA... | AGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAA... | pathogenic | 64,733 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37025924, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAA... | AGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAA... | pathogenic | 64,734 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37025931, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome'] | CTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCT... | CTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCT... | pathogenic | 64,736 |
The chromosome 3, position 37025931 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colon_cancer', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCT... | CTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCT... | pathogenic | 64,737 |
Chromosome 3, position 37025940, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCT... | GAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCT... | pathogenic | 64,740 |
Is the genetic change at chromosome 3, position 37025941, 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', 'Lynch_syndrome'] | AGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTT... | AGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTT... | pathogenic | 64,741 |
Variant on chromosome 3, at position 37025945, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | TCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAA... | TCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAA... | pathogenic | 64,742 |
A genetic variant at chromosome 3, position 37025946, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAG... | CTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAG... | pathogenic | 64,743 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37025950—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | TGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTC... | TGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTC... | pathogenic | 64,745 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37025953 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTT... | CCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTT... | pathogenic | 64,746 |
Assess the variant on chromosome 3, position 37025956, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | ACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAA... | ACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAA... | pathogenic | 64,747 |
A genetic variant on chromosome 3, position 37025956, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAA... | ACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAA... | pathogenic | 64,748 |
Is the genetic variant on chromosome 3, position 37025974, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | pathogenic | 64,756 |
Chromosome 3, position 37025974, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | pathogenic | 64,758 |
Classify the chromosome 3 variant at position 37025974 affecting gene MLH1 (mutL homolog 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | pathogenic | 64,759 |
Does the genetic variant at chromosome 3, position 37025974, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | TGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTA... | pathogenic | 64,760 |
Regarding the variant found on chromosome 3 at position 37025994 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCC... | AAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCC... | pathogenic | 64,767 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37025997 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTG... | GCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTG... | pathogenic | 64,768 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37028781 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GGCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTG... | GGCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTG... | pathogenic | 64,789 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37028782: 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'] | GCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGT... | GCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGT... | pathogenic | 64,791 |
Is the genetic mutation found on chromosome 3 at position 37028783, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | CAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTG... | CAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTG... | pathogenic | 64,792 |
A genetic alteration at chromosome 3, position 37028784, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Lynch_syndrome'] | AACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGA... | AACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGA... | pathogenic | 64,793 |
Regarding the variant found on chromosome 3 at position 37028785 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAA... | ACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAA... | pathogenic | 64,794 |
Does the genetic variant at chromosome 3, position 37028785, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | ACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAA... | ACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAA... | pathogenic | 64,795 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37028787 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome'] | AAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACT... | AAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACT... | pathogenic | 64,796 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37028789 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGG... | GAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGG... | pathogenic | 64,797 |
For chromosome 3, position 37028791, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGA... | GCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGA... | pathogenic | 64,798 |
Is the genetic mutation found on chromosome 3 at position 37028793, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | GAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACA... | GAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACA... | pathogenic | 64,800 |
Is the variant located on chromosome 3 at position 37028801, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTT... | GTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTT... | pathogenic | 64,802 |
Is the genetic change at chromosome 3, position 37028808, within 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'] | AACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTG... | AACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTG... | pathogenic | 64,803 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37028812 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCA... | AACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCA... | pathogenic | 64,804 |
Variant at chromosome 3, position 37028821, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Lynch_syndrome'] | ACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGT... | ACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGT... | pathogenic | 64,806 |
Mutation found at chromosome 3 position 37028828, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTA... | CCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTA... | pathogenic | 64,808 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37028833—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Lynch_syndrome'] | AAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAG... | AAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAG... | pathogenic | 64,810 |
Is the chromosome 3, position 37028834 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lynch_syndrome'] | AAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGA... | AAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGA... | pathogenic | 64,811 |
The chromosome 3, position 37028851 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTT... | GAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTT... | pathogenic | 64,815 |
Is the genetic mutation found on chromosome 3 at position 37028857, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAG... | GTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAG... | pathogenic | 64,817 |
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