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
single nucleotide variant	NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)	KRIT1	Likely pathogenic	7	91864739	91864739	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.729+1G>A	KRIT1	Pathogenic/Likely pathogenic	7	91864716	91864716	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.730-1G>A	KRIT1	Pathogenic	7	91864238	91864238	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.790_794del (p.Gln264fs)	KRIT1	Likely pathogenic	7	91864173	91864177	TATTTG	T	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.842del (p.Asp281fs)	KRIT1	Pathogenic	7	91864125	91864125	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.845+1G>A	KRIT1	Pathogenic	7	91864121	91864121	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.845+2T>A	KRIT1	Pathogenic/Likely pathogenic	7	91864120	91864120	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91863902	91863902	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)	KRIT1	Pathogenic	7	91863872	91863872	G	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)	KRIT1	Likely pathogenic	7	91863804	91863805	C	CGT	criteria provided, single submitter	-