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.898G>C (p.Gly300Arg)	COL3A1	Likely pathogenic	2	189856395	189856395	G	C	criteria provided, single submitter	ClinGen:CA007534
single nucleotide variant	NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)	COL3A1	Likely pathogenic	2	189864277	189864277	G	A	criteria provided, single submitter	ClinGen:CA005179
single nucleotide variant	NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)	COL3A1	Likely pathogenic	2	189856441	189856441	G	C	criteria provided, single submitter	ClinGen:CA007600
single nucleotide variant	NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)	COL3A1	Likely pathogenic	2	189872780	189872780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006417
single nucleotide variant	NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)	COL3A1	Likely pathogenic	2	189858088	189858088	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004045
single nucleotide variant	NM_000090.4(COL3A1):c.582+1G>C	COL3A1	Likely pathogenic	2	189852861	189852861	G	C	criteria provided, single submitter	ClinGen:CA007027
single nucleotide variant	NM_000090.4(COL3A1):c.1761+5G>A	COL3A1	Likely pathogenic	2	189861227	189861227	G	A	criteria provided, single submitter	ClinGen:CA004475
single nucleotide variant	NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu)	COL3A1	Likely pathogenic	2	189874931	189874931	G	A	criteria provided, single submitter	OMIM:120180.0036,ClinVar:101229
single nucleotide variant	NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)	COL3A1	Likely pathogenic	2	189858996	189858996	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004145
single nucleotide variant	NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)	COL3A1	Likely pathogenic	2	189872638	189872638	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006351