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.263_267del (p.Lys88fs)	SMAD4	Pathogenic	18	48575066	48575070	CGGAAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615823
Deletion	NC_000018.10:g.(?_51067019)_(51085042_?)del	SMAD4	Pathogenic	18	48593389	48611412	na	na	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)	SMAD4	Pathogenic	18	48584551	48584558	ATCAGGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616070
single nucleotide variant	NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)	SMAD4	Pathogenic	18	48591933	48591933	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616081
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086
Deletion	NM_001114753.3(ENG):c.1657del (p.Leu553fs)	ENG	Pathogenic/Likely pathogenic	9	130580428	130580428	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618745
Insertion	NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs)	ENG	Pathogenic	9	130581059	130581060	T	TG	criteria provided, single submitter	ClinGen:CA16618746
Deletion	NM_001114753.3(ENG):c.895del (p.Leu299fs)	ENG	Pathogenic/Likely pathogenic	9	130587175	130587175	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618748
Deletion	NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	ENG	Pathogenic	9	130587601	130587605	GCAGCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618749
single nucleotide variant	NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	ENG	Pathogenic	9	130587611	130587611	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618750