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
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