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.289-19_352del	CCM2	Likely pathogenic	7	45104042	45104124	ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG	A	criteria provided, single submitter	-
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.214C>T (p.Gln72Ter)	CCM2	Pathogenic	7	45103526	45103526	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602956
Duplication	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2	Pathogenic	7	45078014	45078015	A	AAG	criteria provided, single submitter	ClinGen:CA645369401
Duplication	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2	Pathogenic	7	45077994	45077995	T	TG	criteria provided, single submitter	ClinGen:CA658796932
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	-
Deletion	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2	Pathogenic	7	45077941	45077941	GC	G	criteria provided, single submitter	ClinGen:CA16603185
Deletion	NM_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2	Pathogenic	7	45077891	45077891	AG	A	criteria provided, multiple submitters, no conflicts	-
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
Insertion	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Pathogenic	7	45077863	45077864	C	CATTTAAACGAGTATTTAAA	criteria provided, single submitter	ClinGen:CA658657671