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_007217.4(PDCD10):c.475-1G>A	PDCD10	Pathogenic	3	167405105	167405105	C	T	criteria provided, single submitter	OMIM:609118.0006
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
single nucleotide variant	NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	KRIT1	Pathogenic	7	91842655	91842655	G	A	criteria provided, single submitter	OMIM:604214.0001
single nucleotide variant	NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	KRIT1	Pathogenic	7	91852184	91852184	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253579,OMIM:604214.0004
single nucleotide variant	NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	KRIT1	Likely pathogenic	7	91865802	91865802	T	C	criteria provided, single submitter	ClinGen:CA253586,OMIM:604214.0008
single nucleotide variant	NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	KRIT1	Pathogenic	7	91864845	91864845	G	C	criteria provided, single submitter	ClinGen:CA253589,OMIM:604214.0009
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	-