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.1573C>T (p.Arg525Ter)	BTK	Pathogenic	X	100609676	100609676	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603524
Duplication	NM_000061.3(BTK):c.215dup (p.Asn72fs)	BTK	Pathogenic	X	100629548	100629549	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603700
single nucleotide variant	NM_000061.3(BTK):c.1064T>A (p.Ile355Asn)	BTK	Pathogenic	X	100613336	100613336	A	T	criteria provided, single submitter	ClinGen:CA16043167
single nucleotide variant	NM_000061.3(BTK):c.1103G>A (p.Gly368Glu)	BTK	Pathogenic	X	100612571	100612571	C	T	criteria provided, single submitter	ClinGen:CA16043191
single nucleotide variant	NM_000061.3(BTK):c.1805C>T (p.Thr602Ile)	BTK	Likely pathogenic	X	100608285	100608285	G	A	criteria provided, single submitter	ClinGen:CA16608229
single nucleotide variant	NM_000061.3(BTK):c.41C>A (p.Ser14Tyr)	BTK	Pathogenic	X	100630232	100630232	G	T	criteria provided, single submitter	ClinGen:CA16608230
single nucleotide variant	NM_000061.3(BTK):c.669T>A (p.Tyr223Ter)	BTK	Pathogenic	X	100615663	100615663	A	T	criteria provided, single submitter	ClinGen:CA16608652
single nucleotide variant	NM_000061.3(BTK):c.370T>C (p.Trp124Arg)	BTK	Likely pathogenic	X	100625007	100625007	A	G	criteria provided, single submitter	ClinGen:CA16608657
single nucleotide variant	NM_000061.3(BTK):c.1580G>C (p.Cys527Ser)	BTK	Pathogenic	X	100609669	100609669	C	G	criteria provided, single submitter	ClinGen:CA16608702
single nucleotide variant	NM_000061.3(BTK):c.1888A>C (p.Met630Leu)	BTK	Likely pathogenic	X	100608202	100608202	T	G	criteria provided, single submitter	ClinGen:CA16621155