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.371G>A (p.Trp124Ter)	BTK	Likely pathogenic	X	100625006	100625006	C	T	criteria provided, single submitter	ClinGen:CA413936992
single nucleotide variant	NM_000061.3(BTK):c.164C>A (p.Ser55Ter)	BTK	Likely pathogenic	X	100629600	100629600	G	T	criteria provided, single submitter	ClinGen:CA413939060
Deletion	NM_000061.3(BTK):c.799_806del (p.Asn267fs)	BTK	Likely pathogenic	X	100615109	100615116	GACATAGTT	G	criteria provided, single submitter	ClinGen:CA658684322
single nucleotide variant	NM_000061.3(BTK):c.588+2T>A	BTK	Likely pathogenic	X	100617159	100617159	A	T	criteria provided, single submitter	ClinGen:CA413933897
single nucleotide variant	NM_000061.3(BTK):c.1489C>T (p.Gln497Ter)	BTK	Pathogenic	X	100611117	100611117	G	A	criteria provided, single submitter	ClinGen:CA413923783
single nucleotide variant	NM_000061.3(BTK):c.46C>T (p.Gln16Ter)	BTK	Pathogenic	X	100630227	100630227	G	A	criteria provided, single submitter	ClinGen:CA413939723
single nucleotide variant	NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)	BTK	Likely pathogenic	X	100611048	100611048	G	C	criteria provided, single submitter	ClinGen:CA413922963
single nucleotide variant	NM_000061.3(BTK):c.1688G>T (p.Trp563Leu)	BTK	Likely pathogenic	X	100608920	100608920	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.278C>A (p.Ser93Ter)	BTK	Pathogenic	X	100626652	100626652	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)	BTK	Pathogenic	X	100608920	100608920	C	T	criteria provided, single submitter	-