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_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM	Pathogenic/Likely pathogenic	11	108098533	108098533	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166087,OMIM:607585.0008
single nucleotide variant	NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	ATM	Pathogenic	11	108236203	108236203	C	T	reviewed by expert panel	ClinGen:CA115937,OMIM:607585.0012
Indel	NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	ATM	Pathogenic/Likely pathogenic	11	108203575	108203576	TG	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA211317,OMIM:607585.0013
Indel	NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	ATM	Pathogenic	11	108143540	108143542	ATC	TGAT	reviewed by expert panel	ClinGen:CA298025,OMIM:607585.0016
single nucleotide variant	NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	ATM	Pathogenic/Likely pathogenic	11	108151895	108151895	G	A	criteria provided, multiple submitters, no conflicts	OMIM:607585.0018,ClinGen:CA193897
single nucleotide variant	NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	ATM	Pathogenic/Likely pathogenic	11	108200960	108200960	C	T	criteria provided, multiple submitters, no conflicts	OMIM:607585.0019,ClinGen:CA325513
single nucleotide variant	NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)	ATM	Pathogenic	11	108158414	108158414	C	T	criteria provided, single submitter	ClinGen:CA249428,OMIM:607585.0024
single nucleotide variant	NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)	ATM	Pathogenic	11	108172506	108172506	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA115949,OMIM:607585.0025
Deletion	NM_000051.3(ATM):c.2839-579_2839-576del	ATM	Pathogenic/Likely pathogenic	11	108141210	108141213	GGTAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252541,OMIM:607585.0026
single nucleotide variant	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Pathogenic/Likely pathogenic	11	108127067	108127067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286741,OMIM:607585.0027