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
single nucleotide variant	NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	WAS	Likely pathogenic	X	48542783	48542783	T	C	criteria provided, single submitter	ClinGen:CA121359,UniProtKB:P42768#VAR_005829,OMIM:300392.0009
single nucleotide variant	NM_000377.3(WAS):c.310C>T (p.Gln104Ter)	WAS	Likely pathogenic	X	48543972	48543972	C	T	criteria provided, single submitter	ClinGen:CA342894
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.559+5G>C	WAS	Likely pathogenic	X	48544528	48544528	G	C	criteria provided, single submitter	ClinGen:CA10588788
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
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
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.290G>A (p.Trp97Ter)	WAS	Likely pathogenic	X	48543952	48543952	G	A	criteria provided, single submitter	ClinGen:CA412866888
single nucleotide variant	NM_000377.3(WAS):c.553C>T (p.Gln185Ter)	WAS	Likely pathogenic	X	48544517	48544517	C	T	criteria provided, single submitter	ClinGen:CA412869529
single nucleotide variant	NM_000377.3(WAS):c.257G>C (p.Arg86Pro)	WAS	Likely pathogenic	X	48542796	48542796	G	C	criteria provided, single submitter	-