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.1511A>T (p.Asp504Val)	BTK	Likely pathogenic	X	100611095	100611095	T	A	criteria provided, single submitter	ClinGen:CA260189
Deletion	NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)	BTK	Likely pathogenic	X	100608928	100608935	CTGGAAATT	C	criteria provided, single submitter	ClinGen:CA260192
Deletion	NM_000061.3(BTK):c.472_475del (p.Thr158fs)	BTK	Pathogenic	X	100617594	100617597	GCTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260194
single nucleotide variant	NM_000061.3(BTK):c.777-2A>G	BTK	Pathogenic/Likely pathogenic	X	100615140	100615140	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260195
single nucleotide variant	NM_000061.3(BTK):c.840-1G>A	BTK	Likely pathogenic	X	100614336	100614336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260197
single nucleotide variant	NM_000061.3(BTK):c.895-2A>G	BTK	Pathogenic/Likely pathogenic	X	100613686	100613686	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260198
single nucleotide variant	NM_000061.3(BTK):c.1760T>C (p.Met587Thr)	BTK	Likely pathogenic	X	100608330	100608330	A	G	criteria provided, single submitter	ClinGen:CA10588731
single nucleotide variant	NM_000061.3(BTK):c.1632-2A>G	BTK	Pathogenic	X	100608978	100608978	T	C	criteria provided, single submitter	ClinGen:CA10588732
single nucleotide variant	NM_000061.3(BTK):c.307C>T (p.Gln103Ter)	BTK	Pathogenic	X	100626623	100626623	G	A	criteria provided, single submitter	ClinGen:CA10588733
single nucleotide variant	NM_000061.3(BTK):c.469C>T (p.Gln157Ter)	BTK	Pathogenic	X	100617600	100617600	G	A	criteria provided, single submitter	ClinGen:CA10603398