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.4612-2A>C	ATM	Likely pathogenic	11	108164038	108164038	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4612-1G>A	ATM	Likely pathogenic	11	108164039	108164039	G	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7796del (p.Thr2599fs)	ATM	Likely pathogenic	11	108203496	108203496	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8585-2A>G	ATM	Likely pathogenic	11	108218004	108218004	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.1754dup (p.Leu585fs)	ATM	Pathogenic/Likely pathogenic	11	108122708	108122709	G	GT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.153dup (p.Gly52fs)	ATM	Likely pathogenic	11	108098581	108098582	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2125-1G>A	ATM	Likely pathogenic	11	108126941	108126941	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1066-2A>C	ATM	Likely pathogenic	11	108119658	108119658	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1066-1G>T	ATM	Likely pathogenic	11	108119659	108119659	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.3292del (p.Gln1098fs)	ATM	Pathogenic/Likely pathogenic	11	108150224	108150224	TC	T	criteria provided, multiple submitters, no conflicts	-