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.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.1579G>A (p.Ala527Thr)	KRIT1	Likely pathogenic	7	91844076	91844076	C	T	criteria provided, single submitter	ClinGen:CA368142537
single nucleotide variant	NM_194454.3(KRIT1):c.730G>T (p.Val244Leu)	KRIT1	Likely pathogenic	7	91864237	91864237	C	A	criteria provided, single submitter	ClinGen:CA368159083
Duplication	NC_000007.13:g.(?_91864697)_(91867093_?)dup	KRIT1	Likely pathogenic	7	91864697	91867093	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
Deletion	NM_194454.3(KRIT1):c.1146+3_1146+4del	KRIT1	Likely pathogenic	7	91855836	91855837	CTT	C	criteria provided, single submitter	ClinGen:CA658796966
single nucleotide variant	NM_194454.3(KRIT1):c.990-1G>A	KRIT1	Likely pathogenic	7	91855997	91855997	C	T	criteria provided, single submitter	ClinGen:CA368153920
Duplication	NM_194454.3(KRIT1):c.1474dup (p.Ala492fs)	KRIT1	Likely pathogenic	7	91851304	91851305	G	GC	criteria provided, single submitter	ClinGen:CA658796965
single nucleotide variant	NM_194454.3(KRIT1):c.729+5G>C	KRIT1	Likely pathogenic	7	91864712	91864712	C	G	criteria provided, single submitter	-