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
Deletion	NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)	ACVRL1	Pathogenic	12	52309270	52309274	TGCATC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter)	ACVRL1	Pathogenic	12	52309918	52309918	G	T	criteria provided, single submitter	ClinGen:CA384902589
Duplication	NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309043	52309044	G	GAGCACGCAGCTGT	criteria provided, single submitter	ClinGen:CA658797917
single nucleotide variant	NM_000020.3(ACVRL1):c.1377+2T>G	ACVRL1	Pathogenic	12	52312901	52312901	T	G	criteria provided, single submitter	ClinGen:CA384904889
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.58C>T (p.Gln20Ter)	ACVRL1	Pathogenic	12	52306316	52306316	C	T	criteria provided, single submitter	ClinGen:CA384896740
single nucleotide variant	NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)	ACVRL1	Pathogenic	12	52309161	52309161	G	A	criteria provided, single submitter	ClinGen:CA384901046
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
single nucleotide variant	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307027	52307027	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897900
Deletion	NC_000012.12:g.(?_51920739)_(51920913_?)del	ACVRL1	Pathogenic	12	52314523	52314697	na	na	criteria provided, single submitter	-