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.734+2T>A	WAS	Pathogenic	X	48545346	48545346	T	A	criteria provided, single submitter	-
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.271C>T (p.Gln91Ter)	WAS	Pathogenic	X	48542810	48542810	C	T	criteria provided, single submitter	ClinGen:CA412866685
Duplication	NM_000377.3(WAS):c.1271dup (p.Leu425fs)	WAS	Pathogenic	X	48547383	48547384	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684302
single nucleotide variant	NM_000377.3(WAS):c.413G>C (p.Arg138Pro)	WAS	Pathogenic	X	48544175	48544175	G	C	criteria provided, single submitter	ClinGen:CA412867848
Deletion	NM_000377.3(WAS):c.1058del (p.Pro353fs)	WAS	Pathogenic	X	48547171	48547171	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA516356341
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.778-6G>A	WAS	Pathogenic	X	48546683	48546683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658985
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