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_001114753.3(ENG):c.1A>C (p.Met1Leu)	ENG	Pathogenic	9	130616634	130616634	T	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127819612)_(127820047_?)del	ENG	Pathogenic	9	130581891	130582326	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127824284)_(127854482_?)del	ENG	Pathogenic	9	130586563	130616761	na	na	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.1268del (p.Asn423fs)	ENG	Pathogenic	9	130582183	130582183	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)	ENG	Pathogenic	9	130588042	130588042	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	ENG	Pathogenic	9	130605447	130605447	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)	ACVRL1	Pathogenic	12	52309270	52309274	TGCATC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr)	ACVRL1	Pathogenic	12	52309900	52309900	G	A	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_000020.3(ACVRL1):c.1246+1G>A	ACVRL1	Pathogenic	12	52310018	52310018	G	A	criteria provided, multiple submitters, no conflicts	-