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_007217.4(PDCD10):c.475-1G>A	PDCD10	Pathogenic	3	167405105	167405105	C	T	criteria provided, single submitter	OMIM:609118.0006
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.510C>G (p.Tyr170Ter)	PDCD10	Pathogenic/Likely pathogenic	3	167405069	167405069	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154090
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_007217.4(PDCD10):c.558-2A>C	PDCD10	Pathogenic	3	167402179	167402179	T	G	criteria provided, single submitter	ClinGen:CA355153966
Duplication	NM_007217.4(PDCD10):c.584dup (p.Asn195fs)	PDCD10	Pathogenic/Likely pathogenic	3	167402150	167402151	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)	PDCD10	Pathogenic	3	167402149	167402149	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_167684288)_(167720177_?)del	PDCD10	Pathogenic	3	167402076	167437965	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	KRIT1	Pathogenic/Likely pathogenic	7	91871449	91871449	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368167328