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_007217.4(PDCD10):c.395+2T>G	PDCD10	Pathogenic	3	167413382	167413382	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.395+1G>A	PDCD10	Likely pathogenic	3	167413383	167413383	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)	PDCD10	Pathogenic	3	167413496	167413496	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007217.4(PDCD10):c.269-1G>C	PDCD10	Likely pathogenic	3	167413511	167413511	C	G	criteria provided, single submitter	-
Deletion	NM_007217.4(PDCD10):c.268+1del	PDCD10	Likely pathogenic	3	167414796	167414796	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.150+1G>T	PDCD10	Likely pathogenic	3	167422629	167422629	C	A	criteria provided, single submitter	-
Deletion	NM_007217.4(PDCD10):c.117del (p.Ala40fs)	PDCD10	Likely pathogenic	3	167422663	167422663	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.30+1G>A	CCM2	Pathogenic	7	45039963	45039963	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	-
Deletion	NM_031443.4(CCM2):c.289-19_352del	CCM2	Likely pathogenic	7	45104042	45104124	ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG	A	criteria provided, single submitter	-