Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) | IGHMBP2 | Pathogenic | 11 | 68673570 | 68673570 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) | IGHMBP2 | Pathogenic | 11 | 68673542 | 68673542 | G | A | criteria provided, single submitter | ClinVar:424782,ClinGen:CA351262 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68671422 | 68671422 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10575803 |