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
single nucleotide variant	NM_000061.3(BTK):c.755G>A (p.Trp252Ter)	BTK	Pathogenic	X	100615577	100615577	C	T	criteria provided, single submitter	ClinGen:CA255806,OMIM:300300.0021
single nucleotide variant	NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	BTK	Pathogenic	X	100615569	100615569	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255809,OMIM:300300.0022
single nucleotide variant	NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	BTK	Pathogenic/Likely pathogenic	X	100614313	100614313	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255812,UniProtKB:Q06187#VAR_006227,OMIM:300300.0025
single nucleotide variant	NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	BTK	Pathogenic	X	100611048	100611048	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255828,OMIM:300300.0036
single nucleotide variant	NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)	BTK	Pathogenic	X	100611047	100611047	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255831,UniProtKB:Q06187#VAR_006251,OMIM:300300.0037
single nucleotide variant	NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)	BTK	Pathogenic	X	100608924	100608924	G	A	criteria provided, single submitter	UniProtKB:Q06187#VAR_006260,OMIM:300300.0042,ClinGen:CA255833
single nucleotide variant	NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)	BTK	Likely pathogenic	X	100608317	100608317	G	T	criteria provided, single submitter	ClinGen:CA255839,OMIM:300300.0045
single nucleotide variant	NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)	BTK	Likely pathogenic	X	100608252	100608252	C	T	criteria provided, single submitter	ClinGen:CA255844,UniProtKB:Q06187#VAR_006272,OMIM:300300.0047
single nucleotide variant	NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)	BTK	Pathogenic	X	100608923	100608923	C	G	criteria provided, single submitter	ClinGen:CA255853,UniProtKB:Q06187#VAR_006259,OMIM:300300.0053
single nucleotide variant	NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)	BTK	Pathogenic	X	100611151	100611151	G	T	criteria provided, single submitter	ClinGen:CA260186