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.3077G>A (p.Trp1026Ter)	ATM	Pathogenic	11	108142133	108142133	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166759
single nucleotide variant	NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)	ATM	Pathogenic	11	108188227	108188227	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166794
single nucleotide variant	NM_000051.4(ATM):c.1898+2T>G	ATM	Pathogenic/Likely pathogenic	11	108123641	108123641	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA166848
single nucleotide variant	NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)	ATM	Pathogenic	11	108155187	108155187	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167215
Deletion	NM_000051.4(ATM):c.5910del (p.Glu1971fs)	ATM	Pathogenic/Likely pathogenic	11	108181033	108181033	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA167261
single nucleotide variant	NM_000051.4(ATM):c.2921+1G>T	ATM	Pathogenic/Likely pathogenic	11	108141874	108141874	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA167275
single nucleotide variant	NM_000051.4(ATM):c.3994-2A>G	ATM	Likely pathogenic	11	108158325	108158325	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167657
single nucleotide variant	NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)	ATM	Pathogenic	11	108137979	108137979	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA167666
single nucleotide variant	NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	ATM	Pathogenic/Likely pathogenic	11	108236086	108236086	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294307,UniProtKB:Q13315#VAR_010893
single nucleotide variant	NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	ATM	Pathogenic/Likely pathogenic	11	108160462	108160462	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167716