原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.424C>T (p.Arg142Ter)	ADA	Pathogenic	20	43254264	43254264	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	ADA	Pathogenic	20	43252917	43252917	AC	A	reviewed by expert panel	ClinGen:CA636174167
single nucleotide variant	NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	ADA	Likely pathogenic	20	43251547	43251547	G	A	reviewed by expert panel	ClinGen:CA9871550
single nucleotide variant	NM_000022.4(ADA):c.7C>T (p.Gln3Ter)	ADA	Pathogenic	20	43280242	43280242	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607987
Duplication	NM_000022.4(ADA):c.532dup (p.Val178fs)	ADA	Pathogenic	20	43252916	43252917	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603464
single nucleotide variant	NM_000022.4(ADA):c.478+1G>A	ADA	Pathogenic	20	43254209	43254209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9871670,OMIM:608958.0026
single nucleotide variant	NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	ADA	Pathogenic/Likely pathogenic	20	43251546	43251546	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577124
single nucleotide variant	NM_000022.4(ADA):c.780+1G>A	ADA	Likely pathogenic	20	43251469	43251469	C	T	criteria provided, single submitter	ClinGen:CA351330,ClinVar:424762
Deletion	NM_000022.4(ADA):c.956_960del (p.Glu319fs)	ADA	Pathogenic	20	43249674	43249678	CCTCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274927
single nucleotide variant	NM_000022.4(ADA):c.536C>A (p.Ala179Asp)	ADA	Likely pathogenic	20	43252913	43252913	G	T	criteria provided, single submitter	ClinGen:CA266018,UniProtKB:P00813#VAR_002229,UniProtKB/Swiss-Prot:VAR_002229