WAS関連疾患 - MGenReviews

WAS関連疾患

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
Deletion	NM_000377.3(WAS):c.852del (p.Glu285fs)	WAS	Likely pathogenic	X	48546762	48546762	GC	G	criteria provided, single submitter	ClinGen:CA658684301
single nucleotide variant	NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	WAS	Pathogenic/Likely pathogenic	X	48546720	48546720	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280988,UniProtKB:P42768#VAR_033256,OMIM:300392.0012
Indel	NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)	WAS	Pathogenic	X	48546714	48546714	G	TT	criteria provided, single submitter	-
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.777+1G>A	WAS	Pathogenic	X	48546486	48546486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043277
Duplication	NM_000377.3(WAS):c.763dup (p.Gln255fs)	WAS	Likely pathogenic	X	48546466	48546467	A	AC	criteria provided, single submitter	ClinGen:CA342900
single nucleotide variant	NM_000377.3(WAS):c.734+2T>A	WAS	Pathogenic	X	48545346	48545346	T	A	criteria provided, single submitter	-
Deletion	NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)	WAS	Pathogenic	X	48545268	48545272	ACCTAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.631C>T (p.Arg211Ter)	WAS	Pathogenic	X	48545241	48545241	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000377.3(WAS):c.559+5G>A	WAS	Pathogenic	X	48544528	48544528	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043320,OMIM:300392.0016