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.3229G>A (p.Gly1077Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189871690	189871690	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587541
single nucleotide variant	NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)	COL3A1	Pathogenic/Likely pathogenic	2	189855042	189855042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576585
single nucleotide variant	NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189875449	189875449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006824
single nucleotide variant	NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189868735	189868735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005604
single nucleotide variant	NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189857640	189857640	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004027
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.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.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.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.1988G>T (p.Gly663Val)	COL3A1	Pathogenic/Likely pathogenic	2	189863410	189863410	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004836