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.1469T>C (p.Leu490Ser)	ENG	Pathogenic/Likely pathogenic	9	130580616	130580616	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5252752
single nucleotide variant	NM_001114753.3(ENG):c.219+5G>C	ENG	Pathogenic/Likely pathogenic	9	130605368	130605368	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656052
single nucleotide variant	NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	ACVRL1	Pathogenic/Likely pathogenic	12	52308369	52308369	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900266
single nucleotide variant	NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)	ENG	Pathogenic/Likely pathogenic	9	130616594	130616594	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989588
single nucleotide variant	NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52307086	52307086	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384898033
single nucleotide variant	NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)	ACVRL1	Pathogenic/Likely pathogenic	12	52312877	52312877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384904714
single nucleotide variant	NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309150	52309150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900954
single nucleotide variant	NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	ENG	Pathogenic/Likely pathogenic	9	130588001	130588001	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983528
single nucleotide variant	NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309906	52309906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902497
Deletion	NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	ENG	Pathogenic/Likely pathogenic	9	130582255	130582256	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369413