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.257G>A (p.Arg86His)	WAS	Pathogenic	X	48542796	48542796	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341003,UniProtKB:P42768#VAR_005830,OMIM:300392.0003
single nucleotide variant	NM_000377.3(WAS):c.167C>T (p.Ala56Val)	WAS	Pathogenic	X	48542706	48542706	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255723,UniProtKB:P42768#VAR_005827,OMIM:300392.0004
single nucleotide variant	NM_000377.3(WAS):c.134C>T (p.Thr45Met)	WAS	Pathogenic	X	48542673	48542673	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255728,UniProtKB:P42768#VAR_008106,OMIM:300392.0010
Deletion	NM_000377.3(WAS):c.11del (p.Gly4fs)	WAS	Pathogenic	X	48542249	48542249	TG	T	criteria provided, single submitter	ClinGen:CA341015,OMIM:300392.0019
single nucleotide variant	NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	WAS	Pathogenic	X	48542279	48542279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342897
single nucleotide variant	NM_000377.3(WAS):c.223G>A (p.Val75Met)	WAS	Pathogenic	X	48542762	48542762	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10403870,UniProtKB:P42768#VAR_005828
Duplication	NM_000377.3(WAS):c.1157dup (p.Gly387fs)	WAS	Pathogenic	X	48547269	48547270	A	AC	criteria provided, single submitter	ClinGen:CA10603599
Duplication	NM_000377.3(WAS):c.1183_1190dup (p.Pro398fs)	WAS	Pathogenic	X	48547299	48547300	A	ACCACCACC	criteria provided, single submitter	ClinGen:CA16043275
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
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