海綿状血管腫 - MGenReviews

海綿状血管腫

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_194454.3(KRIT1):c.141_145del (p.Arg49fs)	KRIT1	Likely pathogenic	7	91870424	91870428	CTCTTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)	KRIT1	Pathogenic	7	91870414	91870417	AACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588441
single nucleotide variant	NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)	KRIT1	Pathogenic	7	91870373	91870373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4339454
Duplication	NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)	KRIT1	Likely pathogenic	7	91870318	91870319	T	TGG	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_92240973)_(92242155_?)del	KRIT1	Pathogenic	7	91870287	91871469	na	na	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	-
Duplication	NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)	KRIT1	Pathogenic	7	91865814	91865815	T	TA	criteria provided, single submitter	ClinGen:CA4339387
single nucleotide variant	NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	KRIT1	Likely pathogenic	7	91865802	91865802	T	C	criteria provided, single submitter	ClinGen:CA253586,OMIM:604214.0008
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	-