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.219-2A>G	ADA	Likely pathogenic	20	43255242	43255242	T	C	reviewed by expert panel	ClinGen:CA252010,OMIM:608958.0017
single nucleotide variant	NM_000022.4(ADA):c.872C>G (p.Ser291Trp)	ADA	Likely pathogenic	20	43249762	43249762	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA085502
single nucleotide variant	NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	ADA	Likely pathogenic	20	43254243	43254243	G	A	reviewed by expert panel	ClinGen:CA266014,UniProtKB:P00813#VAR_002224,UniProtKB/Swiss-Prot:VAR_002224
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
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
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.218+2T>G	ADA	Likely pathogenic	20	43257686	43257686	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000022.4(ADA):c.218+1G>A	ADA	Likely pathogenic	20	43257687	43257687	C	T	criteria provided, multiple submitters, no conflicts	-
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.603C>G (p.Tyr201Ter)	ADA	Likely pathogenic	20	43252846	43252846	G	C	criteria provided, single submitter	-