single nucleotide variant | NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) | IGHMBP2 | Likely pathogenic | 11 | 68696783 | 68696783 | C | A | criteria provided, single submitter | ClinGen:CA10584086 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) | IGHMBP2 | Likely pathogenic | 11 | 68685351 | 68685351 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605930 |
Duplication | NM_000344.4(SMN1):c.135dup (p.Ala46fs) | SMN1 | Likely pathogenic | 5 | 70234716 | 70234717 | T | TA | criteria provided, single submitter | ClinGen:CA658657451 |
Duplication | NM_000344.4(SMN1):c.855dup (p.Glu286fs) | SMN1 | Likely pathogenic | 5 | 70247783 | 70247784 | C | CA | criteria provided, single submitter | ClinGen:CA658683392 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) | IGHMBP2 | Likely pathogenic | 11 | 68682483 | 68682483 | C | T | criteria provided, single submitter | ClinGen:CA223392614 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1418+1G>C | IGHMBP2 | Likely pathogenic | 11 | 68700950 | 68700950 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) | IGHMBP2 | Likely pathogenic | 11 | 68700805 | 68700805 | G | A | criteria provided, single submitter | ClinGen:CA6153589 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.257-2A>G | IGHMBP2 | Likely pathogenic | 11 | 68675611 | 68675611 | A | G | 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 | - |
Duplication | NM_000344.4(SMN1):c.109dup (p.Thr37fs) | SMN1 | Likely pathogenic | 5 | 70234692 | 70234693 | T | TA | criteria provided, single submitter | - |