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.7998dup (p.Met2667fs)	ATM	Pathogenic/Likely pathogenic	11	108204682	108204683	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA287005
single nucleotide variant	NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	ATM	Pathogenic/Likely pathogenic	11	108216545	108216545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287019,UniProtKB:Q13315#VAR_010881
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>A	ATM	Pathogenic/Likely pathogenic	11	108224608	108224608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274150
Deletion	NM_000051.4(ATM):c.9112del (p.Gln3038fs)	ATM	Pathogenic	11	108236176	108236176	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA287048
Duplication	NM_000051.4(ATM):c.2574dup (p.Asn859Ter)	ATM	Pathogenic	11	108138002	108138003	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA157082
single nucleotide variant	NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	ATM	Pathogenic/Likely pathogenic	11	108216596	108216596	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA157183
Deletion	NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	ATM	Pathogenic/Likely pathogenic	11	108117813	108117816	CAAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165318
single nucleotide variant	NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	ATM	Pathogenic/Likely pathogenic	11	108202764	108202764	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA298062
single nucleotide variant	NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	ATM	Pathogenic/Likely pathogenic	11	108206686	108206686	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA293899
Duplication	NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	ATM	Pathogenic/Likely pathogenic	11	108236142	108236143	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA332369