原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1526T>C (p.Met509Thr)	BTK	Pathogenic	X	100611080	100611080	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000061.3(BTK):c.1004T>A (p.Val335Asp)	BTK	Pathogenic	X	100613396	100613396	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)	BTK	Pathogenic	X	100612536	100612536	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000061.3(BTK):c.655del (p.Val219fs)	BTK	Pathogenic	X	100615677	100615677	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.588+1G>T	BTK	Pathogenic/Likely pathogenic	X	100617160	100617160	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000061.3(BTK):c.1701A>C (p.Glu567Asp)	BTK	Likely pathogenic	X	100608907	100608907	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1349+4A>T	BTK	Likely pathogenic	X	100611768	100611768	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.142-205A>G	BTK	Likely pathogenic	X	100629827	100629827	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)	BTK	Pathogenic	X	100608327	100608327	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)	BTK	Pathogenic	X	100608911	100608911	G	C	criteria provided, single submitter	-