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_001029835.2(CCM2):c.382C>T (p.Gln128Ter)	CCM2	Pathogenic	7	45104092	45104092	C	T	criteria provided, single submitter	OMIM Allelic Variant:607929.0002
single nucleotide variant	NM_031443.3(CCM2):c.1A>G (p.Met1Val)	CCM2	Pathogenic	7	45039933	45039933	A	G	criteria provided, single submitter	OMIM Allelic Variant:607929.0005
single nucleotide variant	NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter)	KRIT1	Pathogenic	7	91852184	91852184	G	A	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:604214.0004
single nucleotide variant	NM_194456.1(KRIT1):c.601C>G (p.Gln201Glu)	KRIT1	Pathogenic	7	91864845	91864845	G	C	criteria provided, single submitter	OMIM Allelic Variant:604214.0009
indel	NM_031443.3(CCM2):c.30+5_30+6delinsTT	CCM2	Pathogenic	7	45039967	45039968	GC	TT	criteria provided, multiple submitters, no conflicts	-
copy number loss	GRCh37/hg19 7p13(chr7:45065944-45115876)x1	CCM2	Pathogenic	7	45065944	45115876	na	na	criteria provided, single submitter	-
deletion	NM_194456.1(KRIT1):c.1807del (p.His603fs)	KRIT1	Pathogenic	7	91843217	91843217	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194456.1(KRIT1):c.1731-2A>G	KRIT1	Pathogenic	7	91843295	91843295	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_194456.1(KRIT1):c.1267C>T (p.Arg423Ter)	KRIT1	Pathogenic	7	91852280	91852280	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194456.1(KRIT1):c.1146+1G>A	KRIT1	Pathogenic	7	91855839	91855839	C	T	criteria provided, multiple submitters, no conflicts	-