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.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.1271dup (p.Leu425fs)	WAS	Pathogenic	X	48547383	48547384	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684302
Duplication	NM_000377.3(WAS):c.1219_1235dup (p.Pro413fs)	WAS	Pathogenic	X	48547333	48547334	T	TCCGGGAATGGACCAGCC	criteria provided, single submitter	ClinGen:CA16621419
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
Deletion	NM_000377.3(WAS):c.1058del (p.Pro353fs)	WAS	Pathogenic	X	48547171	48547171	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA516356341
Deletion	NM_000377.3(WAS):c.1001del (p.Gly334fs)	WAS	Pathogenic	X	48547113	48547113	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000377.3(WAS):c.961C>T (p.Arg321Ter)	WAS	Pathogenic	X	48547078	48547078	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412872755
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
Deletion	NM_000377.3(WAS):c.858del (p.Ser287fs)	WAS	Pathogenic	X	48546768	48546768	AC	A	criteria provided, single submitter	-