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.812G>A (p.Trp271Ter)	KRIT1	Pathogenic	7	91864155	91864155	C	T	criteria provided, single submitter	ClinGen:CA368158496
single nucleotide variant	NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	KRIT1	Pathogenic/Likely pathogenic	7	91871449	91871449	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368167328
single nucleotide variant	NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)	KRIT1	Pathogenic	7	91855087	91855087	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA368150819
single nucleotide variant	NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter)	KRIT1	Pathogenic	7	91864185	91864185	G	C	criteria provided, single submitter	ClinGen:CA368158729
single nucleotide variant	NM_194454.3(KRIT1):c.730-2A>G	KRIT1	Pathogenic	7	91864239	91864239	T	C	criteria provided, single submitter	ClinGen:CA368159113
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.1683_1695del (p.Val562fs)	KRIT1	Pathogenic	7	91843960	91843972	AATTTCCATAGACT	A	criteria provided, single submitter	ClinGen:CA658657684
Deletion	NM_194454.3(KRIT1):c.1545del (p.Leu516fs)	KRIT1	Pathogenic	7	91851234	91851234	AG	A	criteria provided, single submitter	ClinGen:CA658657685
single nucleotide variant	NM_194454.3(KRIT1):c.1412-1G>T	KRIT1	Pathogenic	7	91851368	91851368	C	A	criteria provided, single submitter	ClinGen:CA368146801
single nucleotide variant	NM_007217.4(PDCD10):c.268+1G>A	PDCD10	Pathogenic	3	167414796	167414796	C	T	criteria provided, single submitter	ClinGen:CA355154691