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.6108T>A (p.Tyr2036Ter)	ATM	Pathogenic	11	108186750	108186750	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.50_51del (p.His17fs)	ATM	Pathogenic	11	108098401	108098402	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.191T>G (p.Leu64Ter)	ATM	Pathogenic	11	108099910	108099910	T	G	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.357dup (p.Leu120fs)	ATM	Pathogenic	11	108106420	108106421	G	GA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.681dup (p.Gly228fs)	ATM	Pathogenic	11	108115532	108115533	C	CA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer)	ATM	Pathogenic	11	108115673	108115674	C	CTTTAAAAGAAGTCATTATTGAATTA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.929del (p.Ser310fs)	ATM	Pathogenic	11	108117718	108117718	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)	ATM	Pathogenic	11	108121496	108121496	T	G	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.1772dup (p.Asn591fs)	ATM	Pathogenic	11	108122724	108122725	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)	ATM	Pathogenic	11	108124573	108124573	C	G	criteria provided, multiple submitters, no conflicts	-