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	NM_000051.4(ATM):c.8127del (p.Lys2710fs)	ATM	Pathogenic	11	108205812	108205812	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro)	ATM	Likely pathogenic	11	108206609	108206609	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)	ATM	Pathogenic	11	108214053	108214053	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer)	ATM	Pathogenic	11	108218028	108218029	T	TGATAGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAG	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)	ATM	Pathogenic	11	108225575	108225575	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.9131dup (p.Asn3044fs)	ATM	Pathogenic	11	108236190	108236191	C	CA	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108267161)_(108272862_?)del	ATM	Pathogenic	11	108137888	108143589	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108267161)_(108365518_?)del	ATM	Pathogenic	11	108137888	108236245	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108280985)_(108365518_?)del	ATM	Pathogenic	11	108151712	108236245	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108334959)_(108354884_?)del	ATM	Likely pathogenic	11	108205686	108225611	na	na	criteria provided, single submitter	-