Insertion | NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs) | MSH6 | Pathogenic | 2 | 48026161 | 48026162 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795736 |
Deletion | NM_000179.3(MSH6):c.1569_1570del (p.Tyr524fs) | MSH6 | Pathogenic | 2 | 48026691 | 48026692 | CTT | C | criteria provided, single submitter | ClinGen:CA658795753 |
single nucleotide variant | NM_000179.3(MSH6):c.461C>G (p.Ser154Ter) | MSH6 | Pathogenic | 2 | 48023036 | 48023036 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346738562 |
single nucleotide variant | NM_000251.3(MSH2):c.217A>T (p.Lys73Ter) | MSH2 | Pathogenic | 2 | 47635545 | 47635545 | A | T | criteria provided, single submitter | ClinGen:CA346729459 |
Deletion | NM_000251.3(MSH2):c.367-525_493del | MSH2 | Pathogenic | 2 | 47636707 | 47637358 | TTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | T | criteria provided, single submitter | ClinGen:CA658795727 |
Deletion | NM_000251.3(MSH2):c.475del (p.Arg159fs) | MSH2 | Pathogenic | 2 | 47637341 | 47637341 | GA | G | criteria provided, single submitter | ClinGen:CA658795728 |
single nucleotide variant | NM_000179.3(MSH6):c.1835C>G (p.Ser612Ter) | MSH6 | Pathogenic | 2 | 48026957 | 48026957 | C | G | criteria provided, single submitter | ClinGen:CA346749580 |
Deletion | NM_000179.3(MSH6):c.1738del (p.Ser580fs) | MSH6 | Pathogenic | 2 | 48026859 | 48026859 | GT | G | criteria provided, single submitter | ClinGen:CA658795757 |
Deletion | NM_000179.3(MSH6):c.1912del (p.Glu639fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48027033 | 48027033 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795760 |
Duplication | NM_000179.3(MSH6):c.1700dup (p.Phe568fs) | MSH6 | Pathogenic | 2 | 48026819 | 48026820 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795755 |