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.4450_4451del (p.Met1484fs)	ATM	Pathogenic	11	108163359	108163360	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.5496+2_5496+5del	ATM	Likely pathogenic	11	108173755	108173758	GAAGT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.5931del (p.Phe1977fs)	ATM	Pathogenic	11	108183148	108183148	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)	ATM	Pathogenic	11	108188123	108188123	C	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7274del (p.Gly2425fs)	ATM	Pathogenic	11	108199931	108199931	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)	ATM	Pathogenic	11	108202744	108202744	C	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.8148_8151+2del	ATM	Likely pathogenic	11	108205831	108205836	TGTTAAG	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs)	ATM	Pathogenic	11	108218046	108218048	TAT	AAAA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs)	ATM	Pathogenic	11	108236101	108236104	ACTAC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM	Pathogenic/Likely pathogenic	11	108119704	108119704	C	A	criteria provided, multiple submitters, no conflicts	-