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.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.-37_132+35del	WAS	Pathogenic	X	48542204	48542407	ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	WAS	Pathogenic/Likely pathogenic	X	48542333	48542333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412865672
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.19G>T (p.Gly7Ter)	WAS	Pathogenic	X	48542261	48542261	G	T	criteria provided, single submitter	ClinGen:CA16621415
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