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.1372C>T (p.Gln458Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91852175	91852175	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)	KRIT1	Pathogenic	7	91852156	91852156	C	T	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)	KRIT1	Likely pathogenic	7	91852140	91852141	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1412-2A>C	KRIT1	Pathogenic	7	91851369	91851369	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs)	KRIT1	Likely pathogenic	7	91851356	91851357	T	TGA	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)	KRIT1	Likely pathogenic	7	91851308	91851309	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter)	KRIT1	Likely pathogenic	7	91851302	91851302	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)	KRIT1	Pathogenic	7	91851266	91851266	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1563+1G>A	KRIT1	Pathogenic	7	91851215	91851215	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter)	KRIT1	Likely pathogenic	7	91844039	91844039	A	T	criteria provided, single submitter	-