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.488_491del (p.Asn163fs)	ENG	Pathogenic	9	130588821	130588824	GTCAT	G	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.397del (p.Val133fs)	ENG	Pathogenic	9	130588915	130588915	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.314T>A (p.Val105Asp)	ENG	Pathogenic	9	130592012	130592012	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)	ENG	Pathogenic	9	130592046	130592046	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)	ENG	Pathogenic	9	130592097	130592097	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)	ENG	Pathogenic	9	130605426	130605426	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.-8_8del (p.Met1fs)	ENG	Pathogenic	9	130616627	130616642	GCGGTCCATGCTGTCCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1	Pathogenic	12	52307011	52307011	C	T	criteria provided, single submitter	-
Duplication	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)	ACVRL1	Pathogenic	12	52307053	52307054	A	AG	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	-