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
Deletion	NM_000377.3(WAS):c.390del (p.Asp130fs)	WAS	Pathogenic	X	48544152	48544152	AC	A	criteria provided, single submitter	ClinGen:CA645294129
single nucleotide variant	NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	WAS	Pathogenic	X	48547823	48547823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621420
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.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.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