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
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
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.30+1G>A	CCM2	Pathogenic	7	45039963	45039963	G	A	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_031443.4(CCM2):c.31-2A>G	CCM2	Likely pathogenic	7	45077850	45077850	A	G	criteria provided, single submitter	ClinGen:CA367426497
Insertion	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Pathogenic	7	45077863	45077864	C	CATTTAAACGAGTATTTAAA	criteria provided, single submitter	ClinGen:CA658657671
single nucleotide variant	NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	CCM2	Pathogenic	7	45077876	45077876	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4246869
Deletion	NM_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2	Pathogenic	7	45077891	45077891	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2	Pathogenic	7	45077941	45077941	GC	G	criteria provided, single submitter	ClinGen:CA16603185
single nucleotide variant	NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	CCM2	Pathogenic/Likely pathogenic	7	45077990	45077990	A	T	criteria provided, multiple submitters, no conflicts	-