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.4776+2T>C	ATM	Pathogenic	11	108164206	108164206	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA249436,OMIM:607585.0014
single nucleotide variant	NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)	ATM	Pathogenic	11	108159792	108159792	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166177
single nucleotide variant	NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	ATM	Pathogenic/Likely pathogenic	11	108206605	108206605	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166241
Deletion	NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)	ATM	Pathogenic/Likely pathogenic	11	108150314	108150317	CTCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166260
Deletion	NM_000051.4(ATM):c.790del (p.Tyr264fs)	ATM	Pathogenic	11	108115640	108115640	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166283
Duplication	NM_000051.4(ATM):c.1053dup (p.Ile352fs)	ATM	Pathogenic	11	108117841	108117842	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA166301
single nucleotide variant	NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)	ATM	Pathogenic	11	108205809	108205809	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166315
single nucleotide variant	NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)	ATM	Pathogenic/Likely pathogenic	11	108204636	108204636	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166363
Deletion	NM_000051.4(ATM):c.4227del (p.Ser1411fs)	ATM	Pathogenic/Likely pathogenic	11	108159820	108159820	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166590
Deletion	NM_000051.4(ATM):c.1158del (p.Lys387fs)	ATM	Pathogenic	11	108119751	108119751	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166706