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.511C>T (p.Arg171Ter)	ENG	Pathogenic	9	130588801	130588801	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374984114
Deletion	NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	ACVRL1	Pathogenic	12	52307092	52307092	CG	C	criteria provided, single submitter	ClinGen:CA645509322
single nucleotide variant	NM_000020.3(ACVRL1):c.626-3C>G	ACVRL1	Pathogenic	12	52308220	52308220	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509324
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_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	T	criteria provided, single submitter	ClinGen:CA384903729
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.525+1G>A	ACVRL1	Pathogenic	12	52307555	52307555	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899370
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_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_001114753.3(ENG):c.220-1G>A	ENG	Pathogenic	9	130592107	130592107	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374986465