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
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.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.559+5G>C	WAS	Likely pathogenic	X	48544528	48544528	G	C	criteria provided, single submitter	ClinGen:CA10588788
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.310C>T (p.Gln104Ter)	WAS	Likely pathogenic	X	48543972	48543972	C	T	criteria provided, single submitter	ClinGen:CA342894
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