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_001613.4(ACTA2):c.116G>A (p.Arg39His)	ACTA2	Pathogenic/Likely pathogenic	10	90708572	90708572	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P62736#VAR_062577,ClinGen:CA006825
single nucleotide variant	NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)	ACTA2	Pathogenic/Likely pathogenic	10	90708573	90708573	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006808
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
single nucleotide variant	NM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter)	GUCY1A1	Likely pathogenic	4	156651219	156651219	C	T	criteria provided, single submitter	ClinGen:CA16042480
single nucleotide variant	NM_001613.4(ACTA2):c.137T>G (p.Met46Arg)	ACTA2	Likely pathogenic	10	90707136	90707136	A	C	criteria provided, single submitter	ClinGen:CA377513550
single nucleotide variant	NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)	ACTA2	Likely pathogenic	10	90707127	90707127	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377513533
single nucleotide variant	NM_001613.4(ACTA2):c.46T>C (p.Ser16Pro)	ACTA2	Likely pathogenic	10	90708642	90708642	A	G	criteria provided, single submitter	ClinGen:CA377513755
single nucleotide variant	NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)	RNF213	Likely pathogenic	17	78346336	78346336	A	G	criteria provided, single submitter	-
Deletion	NM_001613.4(ACTA2):c.991-1del	ACTA2	Likely pathogenic	10	90695124	90695124	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)	RNF213	Likely pathogenic	17	78341847	78341847	G	T	criteria provided, single submitter	-