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.467G>A (p.Arg156His)	ADA	Pathogenic/Likely pathogenic	20	43254221	43254221	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P00813#VAR_002227,UniProtKB/Swiss-Prot:VAR_002227,OMIM:608958.0032,ClinGen:CA115299
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.302G>T (p.Arg101Leu)	ADA	Pathogenic	20	43255157	43255157	C	A	criteria provided, single submitter	ClinGen:CA266003,UniProtKB:P00813#VAR_002216,UniProtKB/Swiss-Prot:VAR_002216
single nucleotide variant	NM_000022.4(ADA):c.385G>A (p.Val129Met)	ADA	Pathogenic/Likely pathogenic	20	43254303	43254303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266005,UniProtKB:P00813#VAR_002220,UniProtKB/Swiss-Prot:VAR_002220
single nucleotide variant	NM_000022.4(ADA):c.43C>G (p.His15Asp)	ADA	Pathogenic/Likely pathogenic	20	43264920	43264920	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA266012,UniProtKB:P00813#VAR_002210,UniProtKB/Swiss-Prot:VAR_002210
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.529G>A (p.Val177Met)	ADA	Pathogenic/Likely pathogenic	20	43252920	43252920	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266016,UniProtKB:P00813#VAR_002228,UniProtKB/Swiss-Prot:VAR_002228
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
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.780+1G>A	ADA	Likely pathogenic	20	43251469	43251469	C	T	criteria provided, single submitter	ClinGen:CA351330,ClinVar:424762