原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.7669_7670del (p.Leu2557fs)	ATM	Pathogenic	11	108202644	108202645	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	ATM	Pathogenic/Likely pathogenic	11	108235869	108235869	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_108227615)_(108365518_?)del	ATM	Pathogenic	11	108098342	108236245	na	na	criteria provided, single submitter	-
Duplication	NC_000011.9:g.(?_108114674)_(108225607_?)dup	ATM	Likely pathogenic	11	108114674	108225607	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108267165)_(108365514_?)del	ATM	Pathogenic	11	108137892	108236241	na	na	criteria provided, single submitter	-
Duplication	NC_000011.9:g.(?_108198469)_(108225601_?)dup	ATM	Likely pathogenic	11	108198469	108225601	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.217_218del (p.Glu73fs)	ATM	Pathogenic	11	108099935	108099936	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.484C>T (p.Gln162Ter)	ATM	Pathogenic	11	108106549	108106549	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.597T>A (p.Cys199Ter)	ATM	Pathogenic	11	108114780	108114780	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1348del (p.Glu450fs)	ATM	Pathogenic	11	108121537	108121537	TG	T	criteria provided, multiple submitters, no conflicts	-