Duplication | NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) | LRBA | Pathogenic | 4 | 151935778 | 151935779 | T | TTGTCTTCGCTAGC | criteria provided, single submitter | ClinGen:CA658796473 |
Deletion | NM_001364905.1(LRBA):c.839del (p.Lys280fs) | LRBA | Pathogenic | 4 | 151837608 | 151837608 | CT | C | criteria provided, single submitter | ClinGen:CA658653771 |
single nucleotide variant | NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) | LRBA | Likely pathogenic | 4 | 151835465 | 151835465 | G | C | criteria provided, single submitter | ClinGen:CA358435742 |
Deletion | NM_001364905.1(LRBA):c.1923_1924+11del | LRBA | Likely pathogenic | 4 | 151821190 | 151821202 | GAAATTATATACCT | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001364905.1(LRBA):c.2258+2T>G | LRBA | Likely pathogenic | 4 | 151793813 | 151793813 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter) | LRBA | Pathogenic | 4 | 151789428 | 151789428 | G | A | criteria provided, single submitter | ClinGen:CA3103225 |
Indel | NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) | LRBA | Pathogenic | 4 | 151789343 | 151789344 | TC | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) | LRBA | Pathogenic | 4 | 151773051 | 151773051 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) | LRBA | Likely pathogenic | 4 | 151749702 | 151749702 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) | LRBA | Pathogenic | 4 | 151749456 | 151749456 | G | A | criteria provided, single submitter | ClinGen:CA129910,OMIM:606453.0002 |