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_031443.4(CCM2):c.745+1G>C	CCM2	Pathogenic	7	45109561	45109561	G	C	criteria provided, single submitter	-
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.747_750del (p.Asn250fs)	KRIT1	Pathogenic	7	91864217	91864220	GATTT	G	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.810dup (p.Trp271fs)	KRIT1	Pathogenic	7	91864156	91864157	A	AT	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.1342del (p.Met448fs)	KRIT1	Pathogenic	7	91852205	91852205	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter)	KRIT1	Pathogenic	7	91851221	91851221	T	A	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs)	KRIT1	Pathogenic	7	91843275	91843276	G	GGATTTTA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_031443.4(CCM2):c.402_405dup (p.Ile136fs)	CCM2	Pathogenic	7	45104174	45104175	T	TGCCC	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.1775del (p.Ser592fs)	KRIT1	Pathogenic	7	91843249	91843249	AC	A	criteria provided, single submitter	-