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.884C>T (p.Thr295Ile)	ENG	Likely pathogenic	9	130587186	130587186	G	A	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127824284)_(127829847_?)del	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	SMAD4	Likely pathogenic	18	48604701	48604701	G	A	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)	ENG	Likely pathogenic	9	130588071	130588082	GGCCGCCACTCGA	G	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
single nucleotide variant	NM_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
single nucleotide variant	NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)	ACVRL1	Likely pathogenic	12	52312835	52312835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384904048
single nucleotide variant	NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)	ACVRL1	Likely pathogenic	12	52307086	52307086	T	G	criteria provided, single submitter	ClinGen:CA384898032
Deletion	NM_001114753.3(ENG):c.583del (p.Glu195fs)	ENG	Likely pathogenic	9	130588080	130588080	TC	T	criteria provided, single submitter	ClinGen:CA658797294
single nucleotide variant	NM_005359.6(SMAD4):c.250-1G>C	SMAD4	Likely pathogenic	18	48575055	48575055	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458163