Deletion | NM_001364905.1(LRBA):c.5424_5434del (p.Ala1808_Pro1809insTer) | LRBA | Likely pathogenic | 4 | 151727507 | 151727517 | CGAAGGAGAGGA | C | criteria provided, single submitter | ClinGen:CA658657403 |
Deletion | NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs) | LRBA | Likely pathogenic | 4 | 151682960 | 151682963 | AAAGC | A | criteria provided, single submitter | ClinGen:CA658796470 |
single nucleotide variant | NM_001364905.1(LRBA):c.5645+2T>A | LRBA | Likely pathogenic | 4 | 151682933 | 151682933 | A | T | criteria provided, single submitter | - |
Deletion | NC_000004.12:g.(?_150588028)_(150735386_?)del | LRBA | Pathogenic | 4 | 151509180 | 151656538 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter) | LRBA | Pathogenic | 4 | 151356775 | 151356775 | C | T | criteria provided, single submitter | - |
Deletion | NC_000004.12:g.(?_150310209)_(150350179_?)del | LRBA | Pathogenic | 4 | 151231361 | 151271331 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001364905.1(LRBA):c.7849+2T>C | LRBA | Likely pathogenic | 4 | 151231379 | 151231379 | A | G | criteria provided, single submitter | ClinGen:CA358599414 |
single nucleotide variant | NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) | LRBA | Pathogenic | 4 | 151223857 | 151223857 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA129909,UniProtKB:P50851#VAR_068690,OMIM:606453.0001 |
single nucleotide variant | NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter) | LRBA | Pathogenic | 4 | 151199141 | 151199141 | G | A | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_136648058)_(136659435_?)del | CD40LG | Pathogenic | X | 135730217 | 135741594 | na | na | criteria provided, single submitter | - |