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.636+5G>A	COL3A1	Pathogenic	2	189853374	189853374	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007173
single nucleotide variant	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	Likely pathogenic	2	189854132	189854132	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007188
single nucleotide variant	NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)	COL3A1	Pathogenic	2	189854150	189854150	G	T	criteria provided, single submitter	ClinGen:CA007226
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.674G>C (p.Gly225Ala)	COL3A1	Pathogenic/Likely pathogenic	2	189854159	189854159	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007233
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.701G>A (p.Gly234Asp)	COL3A1	Likely pathogenic	2	189854832	189854832	G	A	criteria provided, single submitter	ClinGen:CA007294
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.721G>A (p.Glu241Lys)	COL3A1	Likely pathogenic	2	189854852	189854852	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349849021
single nucleotide variant	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Likely pathogenic	2	189855034	189855034	G	A	criteria provided, single submitter	ClinGen:CA007350,UniProtKB:P02461#VAR_011105,OMIM:120180.0028