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
Duplication	NM_007217.4(PDCD10):c.467dup (p.Asn156fs)	PDCD10	Pathogenic	3	167405409	167405410	G	GT	criteria provided, single submitter	ClinGen:CA10602867
single nucleotide variant	NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)	PDCD10	Pathogenic	3	167422677	167422677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042486,OMIM:609118.0001,OMIM:609118.0003
single nucleotide variant	NM_007217.4(PDCD10):c.150+1G>A	PDCD10	Pathogenic/Likely pathogenic	3	167422629	167422629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154977
single nucleotide variant	NM_007217.4(PDCD10):c.558-2A>C	PDCD10	Pathogenic	3	167402179	167402179	T	G	criteria provided, single submitter	ClinGen:CA355153966
single nucleotide variant	NM_007217.4(PDCD10):c.474+5G>A	PDCD10	Pathogenic/Likely pathogenic	3	167405398	167405398	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657344
Deletion	NM_007217.4(PDCD10):c.160_163del (p.Glu54fs)	PDCD10	Pathogenic	3	167414902	167414905	TTTTC	T	criteria provided, single submitter	ClinGen:CA658657345
single nucleotide variant	NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)	PDCD10	Pathogenic	3	167413457	167413457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154555
single nucleotide variant	NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)	PDCD10	Pathogenic	3	167413478	167413478	G	A	criteria provided, single submitter	ClinGen:CA355154601
single nucleotide variant	NM_007217.4(PDCD10):c.268+1G>A	PDCD10	Pathogenic	3	167414796	167414796	C	T	criteria provided, single submitter	ClinGen:CA355154691