single nucleotide variant | NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68675744 | 68675744 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) | IGHMBP2 | Pathogenic | 11 | 68675795 | 68675795 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA381643380 |
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.449+1G>A | IGHMBP2 | Pathogenic | 11 | 68675806 | 68675806 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381643402 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.547+1G>A | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68676100 | 68676100 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042766 |
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 |
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.711+1G>C | IGHMBP2 | Pathogenic | 11 | 68679072 | 68679072 | G | C | criteria provided, single submitter | - |
Deletion | NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) | IGHMBP2 | Likely pathogenic | 11 | 68682304 | 68682304 | GC | G | criteria provided, single submitter | - |