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.244T>C (p.Ser82Pro)	WAS	Likely pathogenic	X	48542783	48542783	T	C	criteria provided, single submitter	ClinGen:CA121359,UniProtKB:P42768#VAR_005829,OMIM:300392.0009
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.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.257G>C (p.Arg86Pro)	WAS	Likely pathogenic	X	48542796	48542796	G	C	criteria provided, single submitter	-
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
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.290G>A (p.Trp97Ter)	WAS	Likely pathogenic	X	48543952	48543952	G	A	criteria provided, single submitter	ClinGen:CA412866888
single nucleotide variant	NM_000377.3(WAS):c.310C>T (p.Gln104Ter)	WAS	Likely pathogenic	X	48543972	48543972	C	T	criteria provided, single submitter	ClinGen:CA342894
single nucleotide variant	NM_000377.3(WAS):c.355G>T (p.Gly119Ter)	WAS	Pathogenic	X	48544017	48544017	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.360+1G>T	WAS	Pathogenic	X	48544023	48544023	G	T	criteria provided, single submitter	ClinGen:CA16608484