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.4052T>A (p.Leu1351Ter)	ATM	Pathogenic	11	108158385	108158385	T	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4101del (p.Ser1369fs)	ATM	Pathogenic	11	108158434	108158434	AC	A	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs)	ATM	Pathogenic	11	108160435	108160436	TA	GTT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4579del (p.Val1528fs)	ATM	Pathogenic	11	108163485	108163485	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)	ATM	Pathogenic	11	108168061	108168061	C	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6280del (p.Glu2094fs)	ATM	Pathogenic	11	108188181	108188181	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.6555dup (p.Gly2186fs)	ATM	Pathogenic	11	108192128	108192129	A	AT	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6843del (p.Gln2280_Tyr2281insTer)	ATM	Pathogenic	11	108196820	108196820	AC	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7608del (p.His2538fs)	ATM	Pathogenic	11	108202263	108202263	GA	G	criteria provided, single submitter	-
Insertion	NM_000051.4(ATM):c.7655_7656insGA (p.His2552fs)	ATM	Pathogenic	11	108202630	108202631	C	CAG	criteria provided, single submitter	-