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.2267G>A (p.Gly756Glu)	COL3A1	Pathogenic/Likely pathogenic	2	189864605	189864605	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)	COL3A1	Pathogenic/Likely pathogenic	2	189856433	189856434	A	ACT	criteria provided, multiple submitters, no conflicts	-
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.3112G>C (p.Gly1038Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871089	189871089	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189870932	189870932	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349844889
single nucleotide variant	NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189856911	189856911	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349850075
single nucleotide variant	NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189854843	189854843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349849007
single nucleotide variant	NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189861891	189861891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349853181
single nucleotide variant	NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189872843	189872843	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349846513
single nucleotide variant	NM_000090.4(COL3A1):c.897+1G>A	COL3A1	Pathogenic/Likely pathogenic	2	189856258	189856258	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042456