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.5982dup (p.Glu1995fs)	ATM	Pathogenic	11	108183198	108183199	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)	ATM	Pathogenic	11	108183223	108183223	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.6044_6046delinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015fs)	ATM	Pathogenic	11	108186587	108186589	CAG	TTATACTTCTCTTAGAAATCTACAGAAGT	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6258T>G (p.Tyr2086Ter)	ATM	Pathogenic	11	108188159	108188159	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)	ATM	Pathogenic	11	108196815	108196815	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)	ATM	Pathogenic	11	108213964	108213964	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)	ATM	Pathogenic	11	108224499	108224500	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2467-2A>G	ATM	Likely pathogenic	11	108137896	108137896	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3402+1G>C	ATM	Likely pathogenic	11	108150336	108150336	G	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4611+1del	ATM	Likely pathogenic	11	108163520	108163520	AG	A	criteria provided, multiple submitters, no conflicts	-