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.3356G>A (p.Gly1119Asp)	COL3A1	Likely pathogenic	2	189872326	189872326	G	A	criteria provided, single submitter	ClinGen:CA006338
single nucleotide variant	NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)	COL3A1	Likely pathogenic	2	189853326	189853326	G	A	criteria provided, single submitter	ClinGen:CA007113
single nucleotide variant	NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)	COL3A1	Pathogenic	2	189866124	189866124	G	A	criteria provided, single submitter	ClinGen:CA005290
single nucleotide variant	NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	COL3A1	Likely pathogenic	2	189872839	189872839	C	T	criteria provided, single submitter	ClinGen:CA006495
single nucleotide variant	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189856928	189856928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007720
single nucleotide variant	NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189856920	189856920	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007700
single nucleotide variant	NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)	COL3A1	Pathogenic	2	189854150	189854150	G	A	criteria provided, single submitter	ClinGen:CA007217
single nucleotide variant	NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val)	COL3A1	Likely pathogenic	2	189864197	189864197	G	T	criteria provided, single submitter	ClinGen:CA005071
Duplication	NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)	COL3A1	Pathogenic	2	189867764	189867765	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA286343
single nucleotide variant	NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp)	COL3A1	Likely pathogenic	2	189854832	189854832	G	A	criteria provided, single submitter	ClinGen:CA007294