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.3320_3323del (p.Arg1106_Leu1107insTer)	ATM	Likely pathogenic	11	108150252	108150255	GTTAC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1235+1G>A	ATM	Likely pathogenic	11	108119830	108119830	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1236-1G>A	ATM	Pathogenic/Likely pathogenic	11	108121427	108121427	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4436+1G>T	ATM	Likely pathogenic	11	108160529	108160529	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1305del (p.Leu435fs)	ATM	Pathogenic/Likely pathogenic	11	108121497	108121497	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5919-2A>C	ATM	Likely pathogenic	11	108183136	108183136	A	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)	ATM	Pathogenic/Likely pathogenic	11	108122707	108122710	CAGTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)	ATM	Pathogenic	11	108202197	108202197	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3154-1G>A	ATM	Likely pathogenic	11	108143448	108143448	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	ATM	Likely pathogenic	11	108216586	108216586	G	A	criteria provided, multiple submitters, no conflicts	-