single nucleotide variant | NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) | IGHMBP2 | Pathogenic | 11 | 68701934 | 68701934 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA254642,UniProtKB:P38935#VAR_022330,OMIM:600502.0001 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68678998 | 68678998 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA254644,UniProtKB:P38935#VAR_022322,OMIM:600502.0002 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68702872 | 68702872 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA254646,UniProtKB:P38935#VAR_022334,OMIM:600502.0003 |
Deletion | NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68679034 | 68679034 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA254651,OMIM:600502.0005 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) | IGHMBP2 | Pathogenic | 11 | 68679067 | 68679067 | T | G | criteria provided, single submitter | ClinGen:CA254652,OMIM:600502.0006 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.2611+1G>T | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68704560 | 68704560 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254655,OMIM:600502.0007 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) | IGHMBP2 | Pathogenic | 11 | 68673588 | 68673588 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA346109,OMIM:600502.0010 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.449+1G>T | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68675806 | 68675806 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347307,OMIM:600502.0015 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.2784+1G>T | IGHMBP2 | Pathogenic | 11 | 68705823 | 68705823 | G | T | criteria provided, single submitter | ClinGen:CA347308 |
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 |