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
Duplication	NM_000020.3(ACVRL1):c.41dup (p.Met15fs)	ACVRL1	Pathogenic	12	52306298	52306299	C	CT	criteria provided, single submitter	ClinGen:CA16614035
Deletion	NM_000020.3(ACVRL1):c.190del (p.Gln64fs)	ACVRL1	Pathogenic	12	52307007	52307007	AC	A	criteria provided, single submitter	ClinGen:CA16614036
Deletion	NM_000020.3(ACVRL1):c.889del (p.His297fs)	ACVRL1	Pathogenic	12	52309122	52309122	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614159
single nucleotide variant	NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)	ACVRL1	Likely pathogenic	12	52309240	52309240	A	T	criteria provided, single submitter	ClinGen:CA16614166
single nucleotide variant	NM_000020.3(ACVRL1):c.1049-1G>A	ACVRL1	Likely pathogenic	12	52309819	52309819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614167
single nucleotide variant	NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	ACVRL1	Pathogenic	12	52309892	52309892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614168
single nucleotide variant	NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	ACVRL1	Pathogenic	12	52309988	52309988	G	A	criteria provided, single submitter	ClinGen:CA16614169
Deletion	NM_005359.6(SMAD4):c.1198del (p.Arg400fs)	SMAD4	Pathogenic	18	48593447	48593447	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615798
single nucleotide variant	NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)	SMAD4	Likely pathogenic	18	48604673	48604673	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615805
Deletion	NM_005359.6(SMAD4):c.1529del (p.Gly510fs)	SMAD4	Pathogenic	18	48604704	48604704	TG	T	criteria provided, single submitter	ClinGen:CA16615816