Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000179.3(MSH6):c.3173-1G>C | MSH6 | Pathogenic/Likely pathogenic | 2 | 48030558 | 48030558 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011783 |
single nucleotide variant | NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) | MSH6 | Pathogenic | 2 | 48033780 | 48033780 | C | T | reviewed by expert panel | ClinGen:CA015060 |
Deletion | NM_000179.2(MSH6):c.(?_-152)_(*93_?)del | MSH6 | Pathogenic | 2 | 48010221 | 48034092 | na | na | reviewed by expert panel | - |
Deletion | NM_000179.2(MSH6):c.(?_-152)_457+?del | MSH6 | Pathogenic | 2 | 48010221 | 48018262 | na | na | reviewed by expert panel | - |
Deletion | NM_000179.2(MSH6):c.-11863_457+1921del | MSH6 | Pathogenic | 2 | 47998510 | 48020183 | na | na | reviewed by expert panel | LOVD 3:MSH6_000002 |
Deletion | NM_000179.2(MSH6):c.-3097_457+2010del | MSH6 | Pathogenic | 2 | 48007276 | 48020272 | na | na | reviewed by expert panel | - |
Deletion | NM_000179.3(MSH6):c.1085del (p.Pro362fs) | MSH6 | Pathogenic | 2 | 48026205 | 48026205 | GC | G | reviewed by expert panel | ClinGen:CA007988 |
Deletion | NM_000179.3(MSH6):c.1101del (p.His367fs) | MSH6 | Pathogenic | 2 | 48026223 | 48026223 | AT | A | reviewed by expert panel | ClinGen:CA008037 |
single nucleotide variant | NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48026231 | 48026231 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008059 |
Deletion | NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) | MSH6 | Pathogenic | 2 | 48026258 | 48026262 | AGAGAT | A | reviewed by expert panel | ClinGen:CA008119 |