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	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.7849+2T>C	LRBA	Likely pathogenic	4	151231379	151231379	A	G	criteria provided, single submitter	ClinGen:CA358599414
Deletion	NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs)	LRBA	Likely pathogenic	4	151682960	151682963	AAAGC	A	criteria provided, single submitter	ClinGen:CA658796470
Duplication	NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer)	LRBA	Pathogenic	4	151935778	151935779	T	TTGTCTTCGCTAGC	criteria provided, single submitter	ClinGen:CA658796473
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.3811C>T (p.Arg1271Ter)	LRBA	Pathogenic	4	151773051	151773051	G	A	criteria provided, single submitter	-
Deletion	NM_001364905.1(LRBA):c.1923_1924+11del	LRBA	Likely pathogenic	4	151821190	151821202	GAAATTATATACCT	G	criteria provided, multiple submitters, no conflicts	-
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.4801C>T (p.Arg1601Ter)	LRBA	Likely pathogenic	4	151749702	151749702	G	A	criteria provided, multiple submitters, no conflicts	-