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
single nucleotide variant	NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)	ACVRL1	Likely pathogenic	12	52309961	52309961	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys)	ACVRL1	Pathogenic	12	52314581	52314581	G	T	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)	ACVRL1	Pathogenic	12	52314590	52314590	AC	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.69del (p.Met24fs)	SMAD4	Pathogenic	18	48573485	48573485	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter)	SMAD4	Pathogenic	18	48573663	48573663	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)	SMAD4	Pathogenic	18	48575205	48575205	C	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.443del (p.Leu148fs)	SMAD4	Pathogenic	18	48575683	48575683	CT	C	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1067dup (p.Ser357fs)	SMAD4	Pathogenic	18	48591901	48591902	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	SMAD4	Likely pathogenic	18	48593397	48593397	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SMAD4	Pathogenic	18	48593443	48593443	G	A	criteria provided, multiple submitters, no conflicts	-