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.301C>T (p.Gln101Ter)	PDCD10	Pathogenic	3	167413478	167413478	G	A	criteria provided, single submitter	ClinGen:CA355154601
Duplication	NC_000007.13:g.(?_91864697)_(91867093_?)dup	KRIT1	Likely pathogenic	7	91864697	91867093	na	na	criteria provided, single submitter	-
Insertion	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Pathogenic	7	45077863	45077864	C	CATTTAAACGAGTATTTAAA	criteria provided, single submitter	ClinGen:CA658657671
Deletion	NC_000007.14:g.(?_45038253)_(45076470_?)del	CCM2	Pathogenic	7	45077852	45116069	na	na	criteria provided, single submitter	-
Deletion	NC_000007.13:g.(?_91863763)_(91871451_?)del	KRIT1	Pathogenic	7	91863763	91871451	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_92240973)_(92242155_?)del	KRIT1	Pathogenic	7	91870287	91871469	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter)	KRIT1	Pathogenic	7	91851362	91851362	G	A	criteria provided, single submitter	ClinGen:CA368146745
single nucleotide variant	NM_031443.4(CCM2):c.31-2A>G	CCM2	Likely pathogenic	7	45077850	45077850	A	G	criteria provided, single submitter	ClinGen:CA367426497
single nucleotide variant	NM_194454.3(KRIT1):c.2143-1G>A	KRIT1	Pathogenic	7	91830119	91830119	C	T	criteria provided, single submitter	ClinGen:CA368166250
single nucleotide variant	NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter)	KRIT1	Pathogenic	7	91855996	91855996	C	T	criteria provided, single submitter	ClinGen:CA368153913