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_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)	KRIT1	Pathogenic	7	91852147	91852147	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA368146961
single nucleotide variant	NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter)	KRIT1	Pathogenic	7	91864756	91864756	G	C	criteria provided, single submitter	ClinGen:CA368159661
Duplication	NM_194454.3(KRIT1):c.937dup (p.Ser313fs)	KRIT1	Pathogenic	7	91863814	91863815	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796970
Duplication	NM_194454.3(KRIT1):c.1970dup (p.Val658fs)	KRIT1	Pathogenic	7	91842563	91842564	A	AG	criteria provided, single submitter	ClinGen:CA658796963
Deletion	NM_194454.3(KRIT1):c.1146+3_1146+4del	KRIT1	Likely pathogenic	7	91855836	91855837	CTT	C	criteria provided, single submitter	ClinGen:CA658796966
Deletion	NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs)	KRIT1	Pathogenic	7	91830643	91830644	GCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796962
single nucleotide variant	NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)	KRIT1	Pathogenic	7	91870373	91870373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4339454
single nucleotide variant	NM_194454.3(KRIT1):c.990-1G>A	KRIT1	Likely pathogenic	7	91855997	91855997	C	T	criteria provided, single submitter	ClinGen:CA368153920
single nucleotide variant	NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)	KRIT1	Pathogenic	7	91863850	91863850	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368157899
Duplication	NM_007217.4(PDCD10):c.370dup (p.Arg124fs)	PDCD10	Pathogenic	3	167413408	167413409	C	CT	criteria provided, single submitter	ClinGen:CA658796389