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.997-1G>C	COL3A1	Pathogenic/Likely pathogenic	2	189857612	189857612	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007763
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.1763G>A (p.Gly588Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189861892	189861892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004508,UniProtKB:P02461#VAR_011123
single nucleotide variant	NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189859023	189859023	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004179,UniProtKB:P02461#VAR_035738
single nucleotide variant	NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)	COL3A1	Pathogenic	2	189864205	189864205	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005078
single nucleotide variant	NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)	COL3A1	Likely pathogenic	2	189858132	189858132	G	A	criteria provided, single submitter	ClinGen:CA004055
single nucleotide variant	NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)	COL3A1	Likely pathogenic	2	189872842	189872842	G	T	criteria provided, single submitter	ClinGen:CA006513
Deletion	NM_000090.3(COL3A1):c.1610delG	COL3A1	Pathogenic	2	189860850	189860850	AG	A	criteria provided, single submitter	ClinGen:CA004362
single nucleotide variant	NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)	COL3A1	Likely pathogenic	2	189873696	189873696	G	A	criteria provided, single submitter	ClinGen:CA006679
single nucleotide variant	NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)	COL3A1	Likely pathogenic	2	189871080	189871080	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006103,UniProtKB:P02461#VAR_011148