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.1995del (p.Ile665fs)	ATM	Pathogenic	11	108124636	108124636	AT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2019del (p.Lys673fs)	ATM	Pathogenic	11	108124661	108124661	AG	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2116_2117del (p.Ser706fs)	ATM	Pathogenic	11	108124757	108124758	ACT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2134del (p.Ser712fs)	ATM	Pathogenic	11	108126950	108126950	AT	A	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.2508dup (p.Ser837fs)	ATM	Pathogenic	11	108137937	108137938	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.2534del (p.Asn845fs)	ATM	Pathogenic	11	108137963	108137963	GA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.2613dup (p.Pro872fs)	ATM	Pathogenic	11	108138042	108138043	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)	ATM	Pathogenic	11	108141829	108141829	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)	ATM	Pathogenic	11	108143545	108143545	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)	ATM	Pathogenic	11	108143570	108143570	C	A	criteria provided, multiple submitters, no conflicts	-