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.809G>A (p.Gly270Glu)	COL3A1	Likely pathogenic	2	189855740	189855740	G	A	criteria provided, single submitter	ClinGen:CA007473
single nucleotide variant	NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter)	COL3A1	Pathogenic	2	189870962	189870962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006006
single nucleotide variant	NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg)	COL3A1	Likely pathogenic	2	189856395	189856395	G	C	criteria provided, single submitter	ClinGen:CA007534
single nucleotide variant	NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189872851	189872851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006533
single nucleotide variant	NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg)	COL3A1	Likely pathogenic	2	189864277	189864277	G	A	criteria provided, single submitter	ClinGen:CA005179
single nucleotide variant	NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)	COL3A1	Likely pathogenic	2	189856441	189856441	G	C	criteria provided, single submitter	ClinGen:CA007600
single nucleotide variant	NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)	COL3A1	Pathogenic	2	189859303	189859303	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004225,UniProtKB:P02461#VAR_011117
single nucleotide variant	NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val)	COL3A1	Pathogenic	2	189866133	189866133	G	T	criteria provided, single submitter	ClinGen:CA005313
single nucleotide variant	NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)	COL3A1	Likely pathogenic	2	189872780	189872780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006417
single nucleotide variant	NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)	COL3A1	Likely pathogenic	2	189858088	189858088	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004045