WAS関連疾患 - MGenReviews

WAS関連疾患

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1219_1235dup (p.Pro413fs)	WAS	Pathogenic	X	48547333	48547334	T	TCCGGGAATGGACCAGCC	criteria provided, single submitter	ClinGen:CA16621419
single nucleotide variant	NM_000377.3(WAS):c.273+1G>A	WAS	Pathogenic	X	48542813	48542813	G	A	criteria provided, single submitter	ClinGen:CA16621418
single nucleotide variant	NM_000377.3(WAS):c.249C>A (p.Tyr83Ter)	WAS	Pathogenic	X	48542788	48542788	C	A	criteria provided, single submitter	ClinGen:CA16621417
single nucleotide variant	NM_000377.3(WAS):c.19G>T (p.Gly7Ter)	WAS	Pathogenic	X	48542261	48542261	G	T	criteria provided, single submitter	ClinGen:CA16621415
single nucleotide variant	NM_000377.3(WAS):c.360+1G>A	WAS	Pathogenic	X	48544023	48544023	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609187
single nucleotide variant	NM_000377.3(WAS):c.360+1G>T	WAS	Pathogenic	X	48544023	48544023	G	T	criteria provided, single submitter	ClinGen:CA16608484
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