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.1355_1356del (p.Arg452fs)	KRIT1	Pathogenic	7	91852191	91852192	GAC	G	criteria provided, single submitter	ClinGen:CA10603079
single nucleotide variant	NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91864731	91864731	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605352
single nucleotide variant	NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)	PDCD10	Pathogenic	3	167422677	167422677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042486,OMIM:609118.0001,OMIM:609118.0003
Deletion	NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)	KRIT1	Pathogenic/Likely pathogenic	7	91851251	91851255	CTTCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042726
Deletion	NM_194454.3(KRIT1):c.907_913del (p.Leu303fs)	KRIT1	Pathogenic	7	91863839	91863845	CTTAGTAA	C	criteria provided, single submitter	ClinGen:CA16042733
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
Deletion	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2	Pathogenic	7	45077941	45077941	GC	G	criteria provided, single submitter	ClinGen:CA16603185
single nucleotide variant	NM_194454.3(KRIT1):c.486-2A>G	KRIT1	Pathogenic	7	91864962	91864962	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605155
Deletion	NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)	KRIT1	Pathogenic	7	91842574	91842575	TTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618570
Duplication	NM_194454.3(KRIT1):c.1762dup (p.Thr588fs)	KRIT1	Pathogenic	7	91843261	91843262	G	GT	criteria provided, single submitter	ClinGen:CA16618571