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
Deletion	NM_194454.3(KRIT1):c.674del (p.Ala225fs)	KRIT1	Pathogenic/Likely pathogenic	7	91864772	91864772	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.729+1G>A	KRIT1	Pathogenic/Likely pathogenic	7	91864716	91864716	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.845+2T>A	KRIT1	Pathogenic/Likely pathogenic	7	91864120	91864120	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91863902	91863902	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91852175	91852175	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_031443.4(CCM2):c.1234dup (p.Arg412fs)	CCM2	Pathogenic/Likely pathogenic	7	45115553	45115554	A	AC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031443.4(CCM2):c.289-1G>A	CCM2	Pathogenic/Likely pathogenic	7	45104061	45104061	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	CCM2	Pathogenic/Likely pathogenic	7	45077990	45077990	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007217.4(PDCD10):c.584dup (p.Asn195fs)	PDCD10	Pathogenic/Likely pathogenic	3	167402150	167402151	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.730-1G>C	KRIT1	Pathogenic/Likely pathogenic	7	91864238	91864238	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA368159107