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.360+1G>A	WAS	Pathogenic	X	48544023	48544023	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609187
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.413G>C (p.Arg138Pro)	WAS	Pathogenic	X	48544175	48544175	G	C	criteria provided, single submitter	ClinGen:CA412867848
Deletion	NM_000377.3(WAS):c.470_471del (p.Arg157fs)	WAS	Pathogenic	X	48544340	48544341	ACG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.553C>T (p.Gln185Ter)	WAS	Likely pathogenic	X	48544517	48544517	C	T	criteria provided, single submitter	ClinGen:CA412869529
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.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.631C>T (p.Arg211Ter)	WAS	Pathogenic	X	48545241	48545241	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)	WAS	Pathogenic	X	48545268	48545272	ACCTAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.734+2T>A	WAS	Pathogenic	X	48545346	48545346	T	A	criteria provided, single submitter	-