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.559+5G>A	WAS	Pathogenic	X	48544528	48544528	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043320,OMIM:300392.0016
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.1183_1190dup (p.Pro398fs)	WAS	Pathogenic	X	48547299	48547300	A	ACCACCACC	criteria provided, single submitter	ClinGen:CA16043275
Duplication	NM_000377.3(WAS):c.1157dup (p.Gly387fs)	WAS	Pathogenic	X	48547269	48547270	A	AC	criteria provided, single submitter	ClinGen:CA10603599
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.223G>A (p.Val75Met)	WAS	Pathogenic	X	48542762	48542762	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10403870,UniProtKB:P42768#VAR_005828
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.37C>T (p.Arg13Ter)	WAS	Pathogenic	X	48542279	48542279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342897
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.881T>C (p.Ile294Thr)	WAS	Pathogenic/Likely pathogenic	X	48546792	48546792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281104,OMIM:300392.0025