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
Deletion	NC_000020.11:g.(?_44651555)_(44651627_?)del	ADA	Pathogenic	20	43280196	43280268	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	ADA	Pathogenic	20	43255148	43255148	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000022.4(ADA):c.367del (p.Asp123fs)	ADA	Pathogenic	20	43254321	43254321	TC	T	criteria provided, single submitter	ClinVar:624583
single nucleotide variant	NM_000022.4(ADA):c.478+6T>C	ADA	Likely pathogenic	20	43254204	43254204	A	G	criteria provided, single submitter	ClinVar:624582
copy number gain	GRCh37/hg19 20q13.12(chr20:43264839-43265435)	ADA	Pathogenic	20	43264839	43265435	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000022.4(ADA):c.44A>T (p.His15Leu)	ADA	Likely pathogenic	20	43264919	43264919	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000022.4(ADA):c.479-2del	ADA	Likely pathogenic	20	43252972	43252972	CT	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	ATM	Pathogenic/Likely pathogenic	11	108202612	108202620	CTCTAGAATT	C	criteria provided, multiple submitters, no conflicts	OMIM:607585.0002,OMIM:607585.0007,ClinGen:CA115924
single nucleotide variant	NM_000051.4(ATM):c.5763-1050A>G	ATM	Pathogenic/Likely pathogenic	11	108179837	108179837	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA115927,OMIM:607585.0004
single nucleotide variant	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	ATM	Pathogenic	11	108199929	108199929	T	G	reviewed by expert panel	ClinGen:CA115930,UniProtKB:Q13315#VAR_010854,OMIM:607585.0005