原発性免疫不全症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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	-
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
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.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	-
single nucleotide variant	NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)	CD40LG	Likely pathogenic	X	135741555	135741555	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608289