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	NC_000011.10:g.(?_108364109)_(108365518_?)del	ATM	Pathogenic	11	108234836	108236245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6199-1G>T	ATM	Pathogenic	11	108188099	108188099	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6573-9G>A	ATM	Pathogenic/Likely pathogenic	11	108196028	108196028	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8011-2A>C	ATM	Pathogenic	11	108205694	108205694	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)	BTK	Pathogenic/Likely pathogenic	X	100609675	100609675	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255784,UniProtKB:Q06187#VAR_006255,OMIM:300300.0001
single nucleotide variant	NM_000061.3(BTK):c.37C>T (p.Arg13Ter)	BTK	Pathogenic	X	100630236	100630236	G	A	criteria provided, single submitter	ClinGen:CA255788,OMIM:300300.0008
single nucleotide variant	NM_000061.3(BTK):c.43C>T (p.Gln15Ter)	BTK	Pathogenic/Likely pathogenic	X	100630230	100630230	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255791,OMIM:300300.0009
single nucleotide variant	NM_000061.3(BTK):c.1750+5G>A	BTK	Pathogenic	X	100608853	100608853	C	T	criteria provided, single submitter	ClinGen:CA341083,OMIM:300300.0004
single nucleotide variant	NM_000061.3(BTK):c.83G>A (p.Arg28His)	BTK	Pathogenic	X	100630190	100630190	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255794,UniProtKB:Q06187#VAR_006220,OMIM:300300.0005
Duplication	NM_000061.3(BTK):c.557dup (p.Pro187fs)	BTK	Pathogenic	X	100617191	100617192	C	CT	criteria provided, single submitter	ClinGen:CA341089,OMIM:300300.0017