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_194454.3(KRIT1):c.729+2T>C	KRIT1	Pathogenic	7	91864715	91864715	A	G	criteria provided, single submitter	ClinGen:CA368159247
Duplication	NM_194454.3(KRIT1):c.1144dup (p.Arg382fs)	KRIT1	Pathogenic	7	91855841	91855842	C	CT	criteria provided, single submitter	ClinGen:CA658796967
Duplication	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2	Pathogenic	7	45078014	45078015	A	AAG	criteria provided, single submitter	ClinGen:CA645369401
Deletion	NM_031443.4(CCM2):c.683_686del (p.Phe228fs)	CCM2	Pathogenic	7	45109496	45109499	ACTTT	A	criteria provided, single submitter	ClinGen:CA645369402
single nucleotide variant	NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr)	KRIT1	Likely pathogenic	7	91844076	91844076	C	T	criteria provided, single submitter	ClinGen:CA368142537
Duplication	NM_194454.3(KRIT1):c.1932dup (p.Phe645fs)	KRIT1	Pathogenic	7	91842602	91842602	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653783
single nucleotide variant	NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)	KRIT1	Pathogenic	7	91842644	91842644	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA368140091
single nucleotide variant	NM_007217.4(PDCD10):c.150+1G>A	PDCD10	Pathogenic/Likely pathogenic	3	167422629	167422629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154977
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