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_001114753.3(ENG):c.712del (p.Val238fs)	ENG	Pathogenic	9	130587614	130587614	AC	A	criteria provided, single submitter	ClinGen:CA10603150
Deletion	NM_001114753.3(ENG):c.880_881del (p.Asp294fs)	ENG	Pathogenic	9	130587189	130587190	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604865
single nucleotide variant	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1	Pathogenic	12	52314600	52314600	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042853
Duplication	NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)	ACVRL1	Likely pathogenic	12	52314567	52314568	A	ATGCGGGAG	criteria provided, single submitter	ClinGen:CA16043812
single nucleotide variant	NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)	SMAD4	Likely pathogenic	18	48591888	48591888	G	C	criteria provided, single submitter	ClinGen:CA16602471
single nucleotide variant	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	ENG	Pathogenic/Likely pathogenic	9	130580620	130580620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606222
single nucleotide variant	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52306961	52306961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607361
single nucleotide variant	NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309990	52309990	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607366
Duplication	NC_000009.11:g.(?_130605373)_(130605524_?)dup	ENG	Likely pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)	ENG	Pathogenic	9	130580439	130580439	C	T	criteria provided, single submitter	ClinGen:CA500023