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.1373del (p.Gln458fs)	KRIT1	Pathogenic	7	91852174	91852174	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.729+5G>C	KRIT1	Likely pathogenic	7	91864712	91864712	C	G	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_45027705)_(45086112_?)del	CCM2	Pathogenic	7	45067304	45125711	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1730+3A>C	KRIT1	Likely pathogenic	7	91843922	91843922	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)	PDCD10	Pathogenic	3	167402149	167402149	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007217.4(PDCD10):c.558-2A>T	PDCD10	Likely pathogenic	3	167402179	167402179	T	A	criteria provided, single submitter	-
Deletion	NM_007217.4(PDCD10):c.501del (p.Phe167fs)	PDCD10	Likely pathogenic	3	167405078	167405078	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.496G>T (p.Glu166Ter)	PDCD10	Likely pathogenic	3	167405083	167405083	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.396-2A>T	PDCD10	Likely pathogenic	3	167405483	167405483	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.396-3C>G	PDCD10	Pathogenic	3	167405484	167405484	G	C	criteria provided, single submitter	-