Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs) | MSH2 | Pathogenic | 2 | 47702387 | 47702388 | AAC | A | reviewed by expert panel | ClinGen:CA019642 |
Deletion | NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) | MSH2 | Pathogenic | 2 | 47702389 | 47702390 | CAG | C | reviewed by expert panel | ClinGen:CA019651 |
Deletion | NM_000251.3(MSH2):c.1986del (p.Met663fs) | MSH2 | Pathogenic | 2 | 47702390 | 47702390 | AG | A | reviewed by expert panel | ClinGen:CA019657 |
Deletion | NM_000251.3(MSH2):c.1996_1997del (p.Ile666fs) | MSH2 | Pathogenic | 2 | 47702400 | 47702401 | CAT | C | reviewed by expert panel | ClinGen:CA019677 |
single nucleotide variant | NM_000251.3(MSH2):c.2005+1G>A | MSH2 | Likely pathogenic | 2 | 47702410 | 47702410 | G | A | reviewed by expert panel | ClinGen:CA019701 |
single nucleotide variant | NM_000251.3(MSH2):c.2005+1G>C | MSH2 | Likely pathogenic | 2 | 47702410 | 47702410 | G | C | reviewed by expert panel | ClinGen:CA019708 |
single nucleotide variant | NM_000251.3(MSH2):c.2005+1G>T | MSH2 | Likely pathogenic | 2 | 47702410 | 47702410 | G | T | reviewed by expert panel | ClinGen:CA019713 |
single nucleotide variant | NM_000251.3(MSH2):c.2005+2T>C | MSH2 | Pathogenic | 2 | 47702411 | 47702411 | T | C | reviewed by expert panel | ClinGen:CA019723 |
Deletion | NM_000251.3(MSH2):c.2005+2_2005+12del | MSH2 | Likely pathogenic | 2 | 47702410 | 47702420 | GGTAAAAAACCT | G | reviewed by expert panel | ClinGen:CA331420 |
Deletion | NM_000251.3(MSH2):c.2005+2del | MSH2 | Likely pathogenic | 2 | 47702411 | 47702411 | GT | G | reviewed by expert panel | ClinGen:CA331421 |