もやもや病 - MGenReviews

もやもや病

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_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)	RNF213	Pathogenic	17	78341825	78341825	G	A	criteria provided, single submitter	ClinGen:CA130465,OMIM:613768.0003
single nucleotide variant	NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)	RNF213	Likely pathogenic	17	78341847	78341847	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)	RNF213	Likely pathogenic	17	78346336	78346336	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001613.4(ACTA2):c.991-1G>C	ACTA2	Likely pathogenic	10	90695124	90695124	C	G	criteria provided, single submitter	ClinGen:CA007075
Deletion	NM_001613.4(ACTA2):c.991-1del	ACTA2	Likely pathogenic	10	90695124	90695124	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	ACTA2	Pathogenic/Likely pathogenic	10	90699299	90699299	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007026,UniProtKB:P62736#VAR_045921,OMIM:102620.0002
single nucleotide variant	NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)	ACTA2	Pathogenic	10	90699300	90699300	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P62736#VAR_045920,OMIM:102620.0003,ClinGen:CA007017
single nucleotide variant	NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2	Pathogenic/Likely pathogenic	10	90699437	90699437	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006985,UniProtKB:P62736#VAR_062580
single nucleotide variant	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2	Pathogenic	10	90701066	90701066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006970,UniProtKB:P62736#VAR_064516,OMIM:102620.0004
single nucleotide variant	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)	ACTA2	Pathogenic	10	90701067	90701067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588483,OMIM:102620.0008