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_031443.4(CCM2):c.289-19_352del	CCM2	Likely pathogenic	7	45104042	45104124	ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG	A	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)	CCM2	Pathogenic	7	45104127	45104127	C	G	criteria provided, single submitter	ClinGen:CA16043429
Duplication	NM_031443.4(CCM2):c.402_405dup (p.Ile136fs)	CCM2	Pathogenic	7	45104174	45104175	T	TGCCC	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.586del (p.Val196fs)	CCM2	Likely pathogenic	7	45108154	45108154	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.609G>A (p.Lys203=)	CCM2	Likely pathogenic	7	45108178	45108178	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_031443.4(CCM2):c.610-1G>A	CCM2	Pathogenic	7	45109424	45109424	G	A	criteria provided, single submitter	OMIM:607929.0003
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_031443.4(CCM2):c.683_686del (p.Phe228fs)	CCM2	Pathogenic	7	45109496	45109499	ACTTT	A	criteria provided, single submitter	ClinGen:CA645369402
single nucleotide variant	NM_031443.4(CCM2):c.745+1G>C	CCM2	Pathogenic	7	45109561	45109561	G	C	criteria provided, single submitter	-
Deletion	NM_031443.4(CCM2):c.790del (p.Glu264fs)	CCM2	Likely pathogenic	7	45112368	45112368	TG	T	criteria provided, single submitter	-