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.322C>T (p.Arg108Ter)	PDCD10	Pathogenic	3	167413457	167413457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355154555
Duplication	NM_007217.4(PDCD10):c.333dup (p.Gln112fs)	PDCD10	Pathogenic	3	167413445	167413446	G	GT	criteria provided, single submitter	-
Duplication	NM_007217.4(PDCD10):c.370dup (p.Arg124fs)	PDCD10	Pathogenic	3	167413408	167413409	C	CT	criteria provided, single submitter	ClinGen:CA658796389
single nucleotide variant	NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)	PDCD10	Pathogenic	3	167413385	167413385	T	A	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.395+2T>G	PDCD10	Pathogenic	3	167413382	167413382	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007217.4(PDCD10):c.396-3C>G	PDCD10	Pathogenic	3	167405484	167405484	G	C	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	-
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.474+5G>A	PDCD10	Pathogenic/Likely pathogenic	3	167405398	167405398	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657344