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.486-2A>G	KRIT1	Pathogenic	7	91864962	91864962	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605155
single nucleotide variant	NM_194454.3(KRIT1):c.486-1G>A	KRIT1	Pathogenic	7	91864961	91864961	C	T	criteria provided, single submitter	ClinGen:CA368161652
single nucleotide variant	NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)	KRIT1	Likely pathogenic	7	91864958	91864958	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)	KRIT1	Likely pathogenic	7	91864957	91864957	C	T	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.587del (p.Ala196fs)	KRIT1	Likely pathogenic	7	91864859	91864859	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	KRIT1	Pathogenic	7	91864845	91864845	G	C	criteria provided, single submitter	ClinGen:CA253589,OMIM:604214.0009
Duplication	NM_194454.3(KRIT1):c.659dup (p.Leu220fs)	KRIT1	Pathogenic	7	91864786	91864787	T	TA	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.674del (p.Ala225fs)	KRIT1	Pathogenic/Likely pathogenic	7	91864772	91864772	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.679dup (p.Thr227fs)	KRIT1	Pathogenic	7	91864766	91864767	G	GT	criteria provided, single submitter	-
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