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_000022.4(ADA):c.1078+2T>A	ADA	Likely pathogenic	20	43248938	43248938	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000022.4(ADA):c.845+1G>C	ADA	Pathogenic/Likely pathogenic	20	43251228	43251228	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000022.4(ADA):c.736C>T (p.Gln246Ter)	ADA	Pathogenic	20	43251514	43251514	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000022.4(ADA):c.790del (p.Trp264fs)	ADA	Pathogenic/Likely pathogenic	20	43251284	43251284	CA	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)	ADA	Pathogenic/Likely pathogenic	20	43251288	43251289	G	GCAGAC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	ADA	Likely pathogenic	20	43252846	43252846	G	C	criteria provided, single submitter	-
Duplication	NM_000022.4(ADA):c.383_404dup (p.Leu137fs)	ADA	Pathogenic/Likely pathogenic	20	43254283	43254284	C	CTGGCCCACTAGGGCCACCACCT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000022.4(ADA):c.396dup (p.Val133fs)	ADA	Pathogenic	20	43254291	43254292	C	CT	reviewed by expert panel	-
single nucleotide variant	NM_000022.4(ADA):c.350G>A (p.Trp117Ter)	ADA	Pathogenic/Likely pathogenic	20	43255109	43255109	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000022.4(ADA):c.219-1G>A	ADA	Likely pathogenic	20	43255241	43255241	C	T	criteria provided, single submitter	-