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.913T>C (p.Ser305Pro)	ACVRL1	Pathogenic	12	52309149	52309149	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)	ACVRL1	Pathogenic/Likely pathogenic	12	52309886	52309886	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)	ACVRL1	Pathogenic	12	52309914	52309914	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)	ACVRL1	Pathogenic/Likely pathogenic	12	52312843	52312843	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.726C>A (p.Cys242Ter)	ENG	Pathogenic	9	130587600	130587600	G	T	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_001114753.3(ENG):c.1684C>T (p.Gln562Ter)	ENG	Pathogenic	9	130580401	130580401	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)	ENG	Pathogenic	9	130580632	130580632	C	A	criteria provided, single submitter	-
Duplication	NM_001114753.3(ENG):c.1247dup (p.Ser417fs)	ENG	Pathogenic	9	130582203	130582204	C	CA	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	-