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.1412-2A>C	KRIT1	Pathogenic	7	91851369	91851369	T	G	criteria provided, multiple submitters, no conflicts	-
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	-
Duplication	NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)	KRIT1	Pathogenic	7	91843997	91843998	G	GT	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.1710del (p.Lys570fs)	KRIT1	Pathogenic	7	91843945	91843945	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1730+5G>A	KRIT1	Pathogenic	7	91843920	91843920	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)	KRIT1	Pathogenic	7	91843209	91843209	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2026-12A>G	KRIT1	Pathogenic	7	91830749	91830749	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)	KRIT1	Pathogenic	7	91830671	91830671	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031443.4(CCM2):c.610-1G>A	CCM2	Pathogenic	7	45109424	45109424	G	A	criteria provided, single submitter	OMIM:607929.0003