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_000020.2(ACVRL1):c.1321G>A (p.Val441Met)	ACVRL1	Pathogenic/Likely pathogenic	12	52312843	52312843	G	A	criteria provided, multiple submitters, no conflicts	-
short repeat	NM_005359.5(SMAD4):c.1549_1550delAG (p.Ser517Hisfs)	SMAD4	Pathogenic/Likely pathogenic	18	48604725	48604726	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	-
duplication	NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	SMAD4	Pathogenic/Likely pathogenic	18	48593519	48593520	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000118.3(ENG):c.220-1G>A	ENG	Pathogenic/Likely pathogenic	9	130592107	130592107	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu)	ACVRL1	Pathogenic/Likely pathogenic	12	52308295	52308295	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309906	52309906	G	A	criteria provided, multiple submitters, no conflicts	-
deletion	NM_000118.3(ENG):c.1195_1196del (p.Arg399fs)	ENG	Pathogenic/Likely pathogenic	9	130582255	130582256	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309826	52309826	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52312858	52312858	C	T	criteria provided, multiple submitters, no conflicts	-