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.269G>T (p.Cys90Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52307091	52307091	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)	ACVRL1	Pathogenic	12	52308248	52308248	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)	ACVRL1	Pathogenic	12	52308252	52308252	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu)	ACVRL1	Pathogenic	12	52308282	52308282	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro)	ACVRL1	Likely pathogenic	12	52309261	52309261	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52309266	52309266	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)	ACVRL1	Pathogenic	12	52309267	52309267	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52309282	52309282	T	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)	ACVRL1	Likely pathogenic	12	52309959	52309960	TG	AA	criteria provided, single submitter	-