Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_015404.4(WHRN):c.680dup (p.Tyr228fs) | WHRN | Pathogenic | 9 | 117240989 | 117240990 | G | GC | criteria provided, single submitter | OMIM:607928.0005 |
single nucleotide variant | NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter) | WHRN | Pathogenic | 9 | 117186763 | 117186763 | G | A | criteria provided, single submitter | ClinGen:CA277978 |
Deletion | NM_015404.4(WHRN):c.643del (p.Val215fs) | WHRN | Pathogenic | 9 | 117241027 | 117241027 | AC | A | criteria provided, single submitter | ClinGen:CA277980 |
single nucleotide variant | NM_015404.4(WHRN):c.1417-1G>A | WHRN | Pathogenic/Likely pathogenic | 9 | 117185804 | 117185804 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA275406 |
Duplication | NM_015404.4(WHRN):c.856dup (p.Asp286fs) | WHRN | Pathogenic/Likely pathogenic | 9 | 117228653 | 117228654 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618729 |
Deletion | NM_015404.4(WHRN):c.837+1del | WHRN | Likely pathogenic | 9 | 117240832 | 117240832 | AC | A | criteria provided, single submitter | ClinGen:CA5206191 |
single nucleotide variant | NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) | WHRN | Pathogenic | 9 | 117267056 | 117267056 | G | T | criteria provided, single submitter | - |