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.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.881T>C (p.Ile294Thr)	WAS	Pathogenic/Likely pathogenic	X	48546792	48546792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281104,OMIM:300392.0025
single nucleotide variant	NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	WAS	Pathogenic/Likely pathogenic	X	48546720	48546720	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280988,UniProtKB:P42768#VAR_033256,OMIM:300392.0012
Deletion	NM_000377.3(WAS):c.-37_132+35del	WAS	Pathogenic	X	48542204	48542407	ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC	A	criteria provided, single submitter	-
Deletion	NM_000377.3(WAS):c.858del (p.Ser287fs)	WAS	Pathogenic	X	48546768	48546768	AC	A	criteria provided, single submitter	-
Indel	NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)	WAS	Pathogenic	X	48546714	48546714	G	TT	criteria provided, single submitter	-
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.631C>T (p.Arg211Ter)	WAS	Pathogenic	X	48545241	48545241	C	T	criteria provided, multiple submitters, no conflicts	-
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.355G>T (p.Gly119Ter)	WAS	Pathogenic	X	48544017	48544017	G	T	criteria provided, single submitter	-