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.855-1G>A	IL2RG	Pathogenic	X	70328197	70328197	C	T	criteria provided, single submitter	ClinGen:CA413628457
single nucleotide variant	NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter)	IL2RG	Pathogenic	X	70329233	70329233	G	C	criteria provided, single submitter	ClinGen:CA413496157
Deletion	NC_000023.11:g.(?_71108277)_(71108346_?)del	IL2RG	Pathogenic	X	70328127	70328196	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)	IL2RG	Pathogenic	X	70331290	70331290	C	A	criteria provided, single submitter	ClinGen:CA413497595
single nucleotide variant	NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)	IL2RG	Pathogenic	X	70330527	70330527	G	T	criteria provided, single submitter	ClinGen:CA413496915
single nucleotide variant	NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)	IL2RG	Pathogenic	X	70329132	70329132	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413495931
Deletion	NM_000206.3(IL2RG):c.427del (p.Thr143fs)	IL2RG	Pathogenic	X	70330381	70330381	GT	G	criteria provided, single submitter	ClinGen:CA658799779
Deletion	NM_000206.3(IL2RG):c.548del (p.Leu183fs)	IL2RG	Pathogenic	X	70330052	70330052	CA	C	criteria provided, single submitter	ClinGen:CA658799778
single nucleotide variant	NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter)	IL2RG	Pathogenic	X	70330078	70330078	C	T	criteria provided, single submitter	ClinGen:CA413496365
single nucleotide variant	NM_000206.3(IL2RG):c.675C>G (p.Ser225Arg)	IL2RG	Likely pathogenic	X	70329160	70329160	G	C	criteria provided, single submitter	-