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
Duplication	NM_000051.4(ATM):c.192dup (p.Gln65fs)	ATM	Pathogenic	11	108099910	108099911	T	TA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)	ATM	Pathogenic	11	108115716	108115716	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.944del (p.Leu315fs)	ATM	Pathogenic	11	108117732	108117732	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)	ATM	Pathogenic	11	108121513	108121513	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1858del (p.Cys620fs)	ATM	Pathogenic	11	108123599	108123599	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.2255dup (p.Met753fs)	ATM	Pathogenic	11	108128211	108128212	C	CT	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.4725dup (p.Ile1576fs)	ATM	Pathogenic	11	108164152	108164153	G	GT	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.4889_4901dup (p.Ser1635fs)	ATM	Pathogenic	11	108165765	108165766	G	GACATTATGAGAGC	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs)	ATM	Pathogenic	11	108178679	108178695	TTGCTGTTGTGGACTACA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)	ATM	Pathogenic	11	108183199	108183199	A	T	criteria provided, multiple submitters, no conflicts	-