遺伝性出血性末梢血管拡張症 (オスラー病)

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
Deletion	NM_005359.6(SMAD4):c.275_276del (p.His92fs)	SMAD4	Pathogenic	18	48575081	48575082	CAT	C	criteria provided, single submitter	ClinGen:CA658658740
single nucleotide variant	NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973
Indel	NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)	SMAD4	Pathogenic	18	48575132	48575132	T	AAATATGAAC	criteria provided, single submitter	ClinGen:CA234927
single nucleotide variant	NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)	SMAD4	Pathogenic	18	48575205	48575205	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)	SMAD4	Pathogenic	18	48575209	48575209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259169
single nucleotide variant	NM_005359.6(SMAD4):c.424+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48575231	48575231	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.6(SMAD4):c.443del (p.Leu148fs)	SMAD4	Pathogenic	18	48575683	48575683	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
single nucleotide variant	NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)	SMAD4	Pathogenic	18	48581157	48581157	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402460591
single nucleotide variant	NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48581229	48581229	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259180