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	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
Deletion	NC_000007.14:g.(?_45027705)_(45086112_?)del	CCM2	Pathogenic	7	45067304	45125711	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 7p13(chr7:45065944-45115876)x1	CCM2	Pathogenic	7	45065944	45115876	na	na	criteria provided, single submitter	-
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.30+1G>A	CCM2	Pathogenic	7	45039963	45039963	G	A	criteria provided, multiple submitters, no conflicts	-
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.1A>G (p.Met1Val)	CCM2	Pathogenic	7	45039933	45039933	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252397,OMIM:607929.0005