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
single nucleotide variant	NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter)	IL2RG	Pathogenic	X	70330538	70330538	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)	IL2RG	Likely pathogenic	X	70330135	70330135	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)	IL2RG	Likely pathogenic	X	70330835	70330835	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000206.3(IL2RG):c.184T>A (p.Cys62Ser)	IL2RG	Likely pathogenic	X	70330832	70330832	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter)	IL2RG	Pathogenic	X	70330378	70330378	G	A	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.5047C>T (p.Arg1683Ter)	LRBA	Pathogenic	4	151749456	151749456	G	A	criteria provided, single submitter	ClinGen:CA129910,OMIM:606453.0002
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
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
Deletion	NM_001364905.1(LRBA):c.839del (p.Lys280fs)	LRBA	Pathogenic	4	151837608	151837608	CT	C	criteria provided, single submitter	ClinGen:CA658653771