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.2466+2T>G	ATM	Likely pathogenic	11	108129804	108129804	T	G	criteria provided, single submitter	ClinGen:CA382541438
single nucleotide variant	NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)	ATM	Pathogenic	11	108139191	108139191	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545194
Duplication	NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs)	ATM	Pathogenic	11	108151828	108151829	A	AAC	criteria provided, single submitter	ClinGen:CA658656210
Deletion	NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)	ATM	Pathogenic	11	108153550	108153554	ACTTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656236
single nucleotide variant	NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)	ATM	Pathogenic	11	108163402	108163402	T	G	criteria provided, single submitter	ClinGen:CA382533389
Duplication	NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)	ATM	Pathogenic	11	108196843	108196844	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656276
Duplication	NM_000051.4(ATM):c.6908dup (p.Glu2304fs)	ATM	Pathogenic	11	108196879	108196880	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266030
Deletion	NC_000011.9:g.(?_108098171)_(108124564_?)del	ATM	Pathogenic	11	108098171	108124564	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.311del (p.Phe104fs)	ATM	Pathogenic	11	108100029	108100029	CT	C	criteria provided, single submitter	ClinGen:CA658656145
single nucleotide variant	NM_000051.4(ATM):c.557T>G (p.Leu186Ter)	ATM	Pathogenic	11	108114740	108114740	T	G	criteria provided, single submitter	ClinGen:CA382527749