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
Deletion	NM_031443.4(CCM2):c.23del (p.Gly8fs)	CCM2	Pathogenic	7	45039953	45039953	AG	A	criteria provided, single submitter	OMIM:607929.0001
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
single nucleotide variant	NM_031443.4(CCM2):c.1A>G (p.Met1Val)	CCM2	Pathogenic	7	45039933	45039933	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252397,OMIM:607929.0005
Indel	NM_031443.4(CCM2):c.30+5_30+6delinsTT	CCM2	Pathogenic	7	45039967	45039968	GC	TT	criteria provided, multiple submitters, no conflicts	OMIM:607929.0010,ClinGen:CA274922
copy number loss	GRCh37/hg19 7p13(chr7:45065944-45115876)x1	CCM2	Pathogenic	7	45065944	45115876	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)	CCM2	Pathogenic	7	45104127	45104127	C	G	criteria provided, single submitter	ClinGen:CA16043429
Deletion	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2	Pathogenic	7	45077941	45077941	GC	G	criteria provided, single submitter	ClinGen:CA16603185
Duplication	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2	Pathogenic	7	45078014	45078015	A	AAG	criteria provided, single submitter	ClinGen:CA645369401
Deletion	NM_031443.4(CCM2):c.683_686del (p.Phe228fs)	CCM2	Pathogenic	7	45109496	45109499	ACTTT	A	criteria provided, single submitter	ClinGen:CA645369402