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.302G>A (p.Arg101Gln)	ADA	Pathogenic	20	43255157	43255157	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251998,UniProtKB:P00813#VAR_002218,UniProtKB/Swiss-Prot:VAR_002218,OMIM:608958.0003
single nucleotide variant	NM_000022.4(ADA):c.632G>A (p.Arg211His)	ADA	Pathogenic	20	43251694	43251694	C	T	reviewed by expert panel	ClinGen:CA252000,UniProtKB:P00813#VAR_002232,UniProtKB/Swiss-Prot:VAR_002232,OMIM:608958.0004
single nucleotide variant	NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	ADA	Pathogenic/Likely pathogenic	20	43249723	43249723	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252002,UniProtKB:P00813#VAR_002239,OMIM:608958.0005
single nucleotide variant	NM_000022.4(ADA):c.986C>T (p.Ala329Val)	ADA	Pathogenic/Likely pathogenic	20	43249032	43249032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252004,UniProtKB:P00813#VAR_002240,UniProtKB/Swiss-Prot:VAR_002240,OMIM:608958.0006,ClinVar:424762
single nucleotide variant	NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	ADA	Pathogenic/Likely pathogenic	20	43255139	43255139	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252006,UniProtKB:P00813#VAR_002219,UniProtKB/Swiss-Prot:VAR_002219,OMIM:608958.0013
single nucleotide variant	NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	ADA	Pathogenic	20	43251680	43251680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252008,UniProtKB:P00813#VAR_002234,OMIM:608958.0016
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.466C>T (p.Arg156Cys)	ADA	Pathogenic/Likely pathogenic	20	43254222	43254222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252011,UniProtKB:P00813#VAR_002226,UniProtKB/Swiss-Prot:VAR_002226,OMIM:608958.0018
single nucleotide variant	NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	ADA	Pathogenic/Likely pathogenic	20	43249762	43249762	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252013,UniProtKB:P00813#VAR_002237,UniProtKB/Swiss-Prot:VAR_002237,OMIM:608958.0019
single nucleotide variant	NM_000022.4(ADA):c.221G>T (p.Gly74Val)	ADA	Pathogenic	20	43255238	43255238	C	A	criteria provided, single submitter	ClinGen:CA252016,OMIM:608958.0025