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
Deletion	NC_000011.10:g.(?_108227615)_(108229333_?)del	ATM	Pathogenic	11	108098342	108100060	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.72+2T>C	ATM	Pathogenic/Likely pathogenic	11	108098425	108098425	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.901+1_901+26del	ATM	Likely pathogenic	11	108115753	108115778	AGGTATAAAGGAAATGTTTACTGTTTT	A	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108289582)_(108289821_?)del	ATM	Pathogenic	11	108160309	108160548	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108289592)_(108289811_?)del	ATM	Pathogenic	11	108160319	108160538	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108347269)_(108354884_?)del	ATM	Pathogenic	11	108217996	108225611	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108364109)_(108365528_?)del	ATM	Pathogenic	11	108234836	108236255	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4777-1G>A	ATM	Likely pathogenic	11	108165653	108165653	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6976-1G>T	ATM	Pathogenic/Likely pathogenic	11	108198371	108198371	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8010+2T>C	ATM	Likely pathogenic	11	108204697	108204697	T	C	criteria provided, multiple submitters, no conflicts	-