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_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2	Pathogenic	7	45077891	45077891	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.141_145del (p.Arg49fs)	KRIT1	Likely pathogenic	7	91870424	91870428	CTCTTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)	KRIT1	Likely pathogenic	7	91870318	91870319	T	TGG	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)	KRIT1	Pathogenic	7	91867068	91867068	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.363_369del (p.Lys122fs)	KRIT1	Likely pathogenic	7	91865843	91865849	TGTATTTA	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)	KRIT1	Pathogenic	7	91865794	91865794	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)	KRIT1	Likely pathogenic	7	91864958	91864958	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	-
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	-