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_000377.3(WAS):c.173C>A (p.Pro58His)	WAS	Likely pathogenic	X	48542712	48542712	C	A	criteria provided, single submitter	ClinGen:CA16621416
single nucleotide variant	NM_000377.3(WAS):c.249C>A (p.Tyr83Ter)	WAS	Pathogenic	X	48542788	48542788	C	A	criteria provided, single submitter	ClinGen:CA16621417
single nucleotide variant	NM_000377.3(WAS):c.273+1G>A	WAS	Pathogenic	X	48542813	48542813	G	A	criteria provided, single submitter	ClinGen:CA16621418
Duplication	NM_000377.3(WAS):c.1219_1235dup (p.Pro413fs)	WAS	Pathogenic	X	48547333	48547334	T	TCCGGGAATGGACCAGCC	criteria provided, single submitter	ClinGen:CA16621419
single nucleotide variant	NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	WAS	Pathogenic	X	48547823	48547823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621420
Deletion	NM_000377.3(WAS):c.390del (p.Asp130fs)	WAS	Pathogenic	X	48544152	48544152	AC	A	criteria provided, single submitter	ClinGen:CA645294129
Indel	NM_000377.3(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro)	WAS	Likely pathogenic	X	48542699	48542703	TACCT	AACCTGGCGCTGCCCCC	criteria provided, single submitter	ClinGen:CA658658984
single nucleotide variant	NM_000377.3(WAS):c.778-6G>A	WAS	Pathogenic	X	48546683	48546683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658985
single nucleotide variant	NM_000377.3(WAS):c.961C>T (p.Arg321Ter)	WAS	Pathogenic	X	48547078	48547078	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412872755
Deletion	NM_000377.3(WAS):c.1058del (p.Pro353fs)	WAS	Pathogenic	X	48547171	48547171	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA516356341