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
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.777+1G>A	WAS	Pathogenic	X	48546486	48546486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043277
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
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.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
Deletion	NM_000377.3(WAS):c.852del (p.Glu285fs)	WAS	Likely pathogenic	X	48546762	48546762	GC	G	criteria provided, single submitter	ClinGen:CA658684301
Deletion	NM_000377.3(WAS):c.858del (p.Ser287fs)	WAS	Pathogenic	X	48546768	48546768	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	WAS	Pathogenic/Likely pathogenic	X	48546792	48546792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281104,OMIM:300392.0025
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.1001del (p.Gly334fs)	WAS	Pathogenic	X	48547113	48547113	TG	T	criteria provided, multiple submitters, no conflicts	-