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
Duplication	NM_000051.4(ATM):c.5395dup (p.Ser1799fs)	ATM	Pathogenic	11	108173653	108173654	T	TA	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)	ATM	Pathogenic	11	108180929	108180939	TTTAAATTATC	ATT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000051.3(ATM):c.5902_5903insSVAelement	ATM	Pathogenic	11	108181026	108181027	na	na	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.5971dup (p.Glu1991fs)	ATM	Pathogenic	11	108183189	108183190	T	TG	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)	ATM	Pathogenic	11	108186591	108186594	ATAGT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)	ATM	Pathogenic	11	108186750	108186750	T	G	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.6177dup (p.Arg2060fs)	ATM	Pathogenic	11	108186818	108186819	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	ATM	Pathogenic	11	108190748	108190748	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.6523dup (p.Arg2175fs)	ATM	Pathogenic	11	108192097	108192098	C	CA	criteria provided, single submitter	-
Insertion	NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)	ATM	Pathogenic	11	108199817	108199818	T	TAGCC	criteria provided, single submitter	-