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_007217.4(PDCD10):c.268+1del	PDCD10	Likely pathogenic	3	167414796	167414796	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.269-1G>C	PDCD10	Likely pathogenic	3	167413511	167413511	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.395+1G>A	PDCD10	Likely pathogenic	3	167413383	167413383	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.396-2A>T	PDCD10	Likely pathogenic	3	167405483	167405483	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.496G>T (p.Glu166Ter)	PDCD10	Likely pathogenic	3	167405083	167405083	C	A	criteria provided, single submitter	-
Deletion	NM_007217.4(PDCD10):c.501del (p.Phe167fs)	PDCD10	Likely pathogenic	3	167405078	167405078	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.558-2A>T	PDCD10	Likely pathogenic	3	167402179	167402179	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1730+3A>C	KRIT1	Likely pathogenic	7	91843922	91843922	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.729+5G>C	KRIT1	Likely pathogenic	7	91864712	91864712	C	G	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1474dup (p.Ala492fs)	KRIT1	Likely pathogenic	7	91851304	91851305	G	GC	criteria provided, single submitter	ClinGen:CA658796965