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
Insertion	NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	ATM	Pathogenic/Likely pathogenic	11	108190736	108190737	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA350459
Deletion	NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)	ATM	Pathogenic	11	108196112	108196119	ATTTTAGTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350257
Deletion	NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)	ATM	Pathogenic	11	108198405	108198406	ATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349869
single nucleotide variant	NM_000051.4(ATM):c.7789-3T>G	ATM	Pathogenic/Likely pathogenic	11	108203486	108203486	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA350818
Deletion	NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)	ATM	Pathogenic	11	108235830	108235831	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350133
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>A	ATM	Pathogenic/Likely pathogenic	11	108236051	108236051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348186
single nucleotide variant	NM_000051.4(ATM):c.6198+1G>A	ATM	Pathogenic/Likely pathogenic	11	108186841	108186841	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265875
single nucleotide variant	NM_000051.4(ATM):c.3747-1G>A	ATM	Likely pathogenic	11	108154953	108154953	G	A	criteria provided, single submitter	ClinGen:CA16044129
single nucleotide variant	NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	ATM	Pathogenic/Likely pathogenic	11	108164163	108164163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353545
single nucleotide variant	NM_000051.4(ATM):c.5762+1G>T	ATM	Pathogenic/Likely pathogenic	11	108178712	108178712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353503