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.1309C>T (p.Arg437Trp)	ENG	Pathogenic/Likely pathogenic	9	130581903	130581903	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.1145del (p.Cys382fs)	ENG	Pathogenic	9	130582306	130582306	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	ENG	Pathogenic/Likely pathogenic	9	130587171	130587171	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.574_580del (p.Arg192fs)	ENG	Pathogenic	9	130588083	130588089	AGCGTGCG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	ENG	Pathogenic/Likely pathogenic	9	130605437	130605437	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.97C>T (p.Gln33Ter)	ENG	Pathogenic	9	130605495	130605495	G	A	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.41_51del (p.Leu14fs)	ENG	Pathogenic	9	130616584	130616594	TGCAGCTGGCCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)	ACVRL1	Pathogenic	12	52307085	52307085	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52308274	52308274	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.870del (p.Arg291fs)	ACVRL1	Pathogenic	12	52309106	52309106	AG	A	criteria provided, single submitter	-