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.1025T>C (p.Leu342Pro)	ACVRL1	Likely pathogenic	12	52309261	52309261	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)	ACVRL1	Likely pathogenic	12	52307088	52307088	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)	ENG	Likely pathogenic	9	130586629	130586629	C	G	criteria provided, single submitter	-
Duplication	NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)	ENG	Likely pathogenic	9	130587536	130587537	C	CGATGAGCCAG	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter)	SMAD4	Likely pathogenic	18	48604790	48604790	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1140-2A>C	SMAD4	Likely pathogenic	18	48593387	48593387	A	C	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127824284)_(127824994_?)del	ENG	Likely pathogenic	9	130586563	130587273	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly)	ACVRL1	Likely pathogenic	12	52309991	52309991	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.68-3C>G	ENG	Likely pathogenic	9	130605527	130605527	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1311G>T (p.Arg437=)	ENG	Likely pathogenic	9	130581901	130581901	C	A	criteria provided, single submitter	-