海綿状血管腫 - MGenReviews

海綿状血管腫

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
Duplication	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2	Pathogenic	7	45077994	45077995	T	TG	criteria provided, single submitter	ClinGen:CA658796932
Duplication	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2	Pathogenic	7	45078014	45078015	A	AAG	criteria provided, single submitter	ClinGen:CA645369401
single nucleotide variant	NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	CCM2	Pathogenic	7	45103526	45103526	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602956
Deletion	NM_031443.4(CCM2):c.219_220del (p.Leu73fs)	CCM2	Pathogenic	7	45103531	45103532	TAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.289-1G>A	CCM2	Pathogenic/Likely pathogenic	7	45104061	45104061	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031443.4(CCM2):c.289-1G>T	CCM2	Pathogenic	7	45104061	45104061	G	T	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.295del (p.His99fs)	CCM2	Pathogenic	7	45104066	45104066	GC	G	criteria provided, single submitter	ClinGen:CA658657672
Deletion	NM_031443.4(CCM2):c.298del (p.Gln100fs)	CCM2	Likely pathogenic	7	45104070	45104070	AC	A	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer)	CCM2	Pathogenic	7	45104086	45104086	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)	CCM2	Pathogenic	7	45104092	45104092	C	T	criteria provided, multiple submitters, no conflicts	OMIM:607929.0002,ClinGen:CA252392