Deletion | NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) | IGHMBP2 | Pathogenic | 11 | 68682359 | 68682359 | AG | A | criteria provided, single submitter | - |
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.163C>T (p.Gln55Ter) | IGHMBP2 | Pathogenic | 11 | 68673613 | 68673613 | C | T | criteria provided, single submitter | - |
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.1336C>T (p.Gln446Ter) | IGHMBP2 | Pathogenic | 11 | 68700867 | 68700867 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) | IGHMBP2 | Pathogenic | 11 | 68673691 | 68673691 | TA | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) | IGHMBP2 | Pathogenic | 11 | 68704523 | 68704523 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1633-2A>G | IGHMBP2 | Likely pathogenic | 11 | 68702765 | 68702765 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) | IGHMBP2 | Pathogenic | 11 | 68701360 | 68701360 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68696746 | 68696746 | T | C | criteria provided, multiple submitters, no conflicts | - |