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.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.388C>T (p.Arg130Ter) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68675744 | 68675744 | C | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) | IGHMBP2 | Pathogenic | 11 | 68675648 | 68675659 | GGCAGTCAGCTG | ATGCT | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369513 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.257-2A>G | IGHMBP2 | Likely pathogenic | 11 | 68675611 | 68675611 | A | G | criteria provided, single submitter | - |
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.163C>T (p.Gln55Ter) | IGHMBP2 | Pathogenic | 11 | 68673613 | 68673613 | C | T | criteria provided, single submitter | - |
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 |
Deletion | NM_002180.3(IGHMBP2):c.133del (p.Val45fs) | IGHMBP2 | Pathogenic | 11 | 68673583 | 68673583 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) | IGHMBP2 | Pathogenic | 11 | 68673577 | 68673577 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6153192 |