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.1757T>C (p.Leu586Ser)	BTK	Likely pathogenic	X	100608333	100608333	A	G	criteria provided, single submitter	ClinGen:CA16621156
single nucleotide variant	NM_000061.3(BTK):c.1185G>A (p.Trp395Ter)	BTK	Pathogenic	X	100611936	100611936	C	T	criteria provided, single submitter	ClinGen:CA16621157
single nucleotide variant	NM_000061.3(BTK):c.894+1G>A	BTK	Pathogenic	X	100614280	100614280	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621159
single nucleotide variant	NM_000061.3(BTK):c.1978T>G (p.Ter660Gly)	BTK	Likely pathogenic	X	100604875	100604875	A	C	criteria provided, single submitter	ClinGen:CA413917454
single nucleotide variant	NM_000061.3(BTK):c.-31+5G>T	BTK	Likely pathogenic	X	100641045	100641045	C	A	criteria provided, single submitter	ClinGen:CA645369759
Deletion	NM_000061.3(BTK):c.1771del (p.Tyr591fs)	BTK	Likely pathogenic	X	100608319	100608319	TA	T	criteria provided, single submitter	ClinGen:CA645373311
single nucleotide variant	NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)	BTK	Pathogenic	X	100608310	100608310	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413919441
single nucleotide variant	NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)	BTK	Pathogenic	X	100630154	100630154	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA413939330
Deletion	NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)	BTK	Pathogenic	X	100609665	100609668	CCAAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684320,OMIM:300300.0039
single nucleotide variant	NM_000061.3(BTK):c.863G>A (p.Arg288Gln)	BTK	Pathogenic	X	100614312	100614312	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413930070