Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) | CR2 | Pathogenic | 1 | 207641888 | 207641888 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) | CR2 | Pathogenic | 1 | 207658858 | 207658858 | C | T | criteria provided, single submitter | - |
Deletion | NM_001006658.3(CR2):c.721_722del (p.Phe241fs) | CR2 | Pathogenic | 1 | 207642228 | 207642229 | CTT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) | CR2 | Pathogenic | 1 | 207642544 | 207642544 | G | T | criteria provided, single submitter | - |
Insertion | NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) | CR2 | Pathogenic | 1 | 207646205 | 207646206 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) | CR2 | Pathogenic | 1 | 207640236 | 207640236 | C | T | criteria provided, single submitter | ClinGen:CA1368411 |
single nucleotide variant | NM_001006658.3(CR2):c.1225+1G>C | CR2 | Pathogenic | 1 | 207643448 | 207643448 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:120650.0002,ClinGen:CA129908 |