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_000020.3(ACVRL1):c.145del (p.Ala49fs)	ACVRL1	Pathogenic	12	52306961	52306961	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.1042del (p.Asp348fs)	ACVRL1	Pathogenic	12	52309278	52309278	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)	ACVRL1	Pathogenic	12	52309284	52309284	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr)	ACVRL1	Pathogenic	12	52309176	52309176	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000009.12:g.(?_127824284)_(127824994_?)del	ENG	Likely pathogenic	9	130586563	130587273	na	na	criteria provided, single submitter	-
Duplication	NM_001114753.3(ENG):c.1515dup (p.Leu506fs)	ENG	Pathogenic	9	130580569	130580570	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1429-2A>G	ENG	Pathogenic	9	130580658	130580658	T	C	criteria provided, single submitter	-
Deletion	NC_000018.10:g.(?_51030213)_(51078477_?)del	SMAD4	Pathogenic	18	48556583	48604847	na	na	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.939dup (p.Ile314fs)	SMAD4	Pathogenic	18	48586267	48586268	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)	SMAD4	Pathogenic	18	48603040	48603064	TGCAGCAGCAGGCGGCTACTGCACAA	T	criteria provided, single submitter	-