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_000020.3(ACVRL1):c.526-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52307757	52307757	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter)	SMAD4	Pathogenic	18	48604750	48604750	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)	SMAD4	Pathogenic	18	48581281	48581281	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000018.10:g.(?_51076628)_(51078477_?)del	SMAD4	Pathogenic	18	48602998	48604847	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1140-2A>C	SMAD4	Likely pathogenic	18	48593387	48593387	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter)	SMAD4	Likely pathogenic	18	48604790	48604790	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)	ACVRL1	Pathogenic	12	52309992	52309992	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.690-2A>T	ENG	Pathogenic	9	130587638	130587638	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-216C>G	ACVRL1	Pathogenic	12	52314327	52314327	C	G	criteria provided, single submitter	OMIM:601284.0016
Deletion	NM_001114753.3(ENG):c.1701del (p.Val568fs)	ENG	Pathogenic	9	130579468	130579468	CA	C	criteria provided, single submitter	-