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.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.295del (p.His99fs)	CCM2	Pathogenic	7	45104066	45104066	GC	G	criteria provided, single submitter	ClinGen:CA658657672
Insertion	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Pathogenic	7	45077863	45077864	C	CATTTAAACGAGTATTTAAA	criteria provided, single submitter	ClinGen:CA658657671
Deletion	NC_000007.14:g.(?_45038253)_(45076470_?)del	CCM2	Pathogenic	7	45077852	45116069	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)	CCM2	Likely pathogenic	7	45109450	45109450	T	C	criteria provided, single submitter	ClinGen:CA367430545
Duplication	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2	Pathogenic	7	45077994	45077995	T	TG	criteria provided, single submitter	ClinGen:CA658796932
Deletion	NM_031443.4(CCM2):c.219_220del (p.Leu73fs)	CCM2	Pathogenic	7	45103531	45103532	TAA	T	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_45027705)_(45086112_?)del	CCM2	Pathogenic	7	45067304	45125711	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.30+1G>A	CCM2	Pathogenic	7	45039963	45039963	G	A	criteria provided, multiple submitters, no conflicts	-