血管型エーラス・ダンロス症候群

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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_000090.4(COL3A1):c.447+1G>A	COL3A1	Likely pathogenic	2	189850505	189850505	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)	COL3A1	Likely pathogenic	2	189858142	189858142	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3093+1G>T	COL3A1	Likely pathogenic	2	189870986	189870986	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)	COL3A1	Pathogenic/Likely pathogenic	2	189855061	189855061	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter)	COL3A1	Likely pathogenic	2	189853355	189853355	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)	COL3A1	Likely pathogenic	2	189849551	189849551	C	G	criteria provided, multiple submitters, no conflicts	OMIM:120180.0039
single nucleotide variant	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1	Pathogenic	2	189859047	189859047	C	T	criteria provided, multiple submitters, no conflicts	OMIM:120180.0037
Deletion	NM_000090.4(COL3A1):c.2102del (p.Pro701fs)	COL3A1	Pathogenic	2	189864086	189864086	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val)	COL3A1	Pathogenic	2	189864084	189864084	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4012-2A>G	COL3A1	Likely pathogenic	2	189875372	189875372	A	G	criteria provided, single submitter	-