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.542_545del (p.Asp181fs)	ACVRL1	Pathogenic	12	52307772	52307775	GTGAC	G	criteria provided, single submitter	ClinGen:CA658656299
single nucleotide variant	NM_000020.3(ACVRL1):c.313+1G>T	ACVRL1	Pathogenic	12	52307135	52307135	G	T	criteria provided, single submitter	ClinGen:CA384898146
Deletion	NC_000012.11:g.(?_52306239)_(52314697_?)del	ACVRL1	Pathogenic	12	52306239	52314697	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	ACVRL1	Pathogenic	12	52309975	52309975	G	A	criteria provided, single submitter	ClinGen:CA384902923
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
Duplication	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1	Pathogenic	12	52306920	52306921	C	CT	criteria provided, single submitter	ClinGen:CA658653654
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.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.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.1270C>T (p.Pro424Ser)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	T	criteria provided, single submitter	ClinGen:CA384903729