血管型エーラス・ダンロス症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.2267G>A (p.Gly756Glu)	COL3A1	Pathogenic/Likely pathogenic	2	189864605	189864605	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.852+2T>C	COL3A1	Likely pathogenic	2	189855785	189855785	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3823+1G>T	COL3A1	Likely pathogenic	2	189873948	189873948	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2229+1G>A	COL3A1	Likely pathogenic	2	189864304	189864304	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.691-2A>G	COL3A1	Pathogenic	2	189854820	189854820	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3255+1G>C	COL3A1	Pathogenic	2	189871717	189871717	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)	COL3A1	Pathogenic	2	189876459	189876459	C	T	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)	COL3A1	Likely pathogenic	2	189872774	189872800	CCCAGTGGACCTCCTGGCAAAGATGGAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)	COL3A1	Likely pathogenic	2	189864233	189864233	G	A	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)	COL3A1	Likely pathogenic	2	189864052	189864057	TGGCAGG	T	criteria provided, single submitter	-