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.3391G>A (p.Gly1131Ser)	COL3A1	Likely pathogenic	2	189872638	189872638	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006351
single nucleotide variant	NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)	COL3A1	Likely pathogenic	2	189871144	189871144	G	A	criteria provided, single submitter	ClinGen:CA006156
single nucleotide variant	NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)	COL3A1	Likely pathogenic	2	189866124	189866124	G	T	criteria provided, single submitter	ClinGen:CA005297
single nucleotide variant	NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys)	COL3A1	Likely pathogenic	2	189868861	189868861	G	T	criteria provided, single submitter	ClinGen:CA005707
single nucleotide variant	NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu)	COL3A1	Likely pathogenic	2	189870176	189870176	G	A	criteria provided, single submitter	ClinGen:CA005953,UniProtKB:P02461#VAR_011146
single nucleotide variant	NM_000090.4(COL3A1):c.2284-2A>G	COL3A1	Likely pathogenic	2	189866121	189866121	A	G	criteria provided, single submitter	ClinGen:CA005275
single nucleotide variant	NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)	COL3A1	Likely pathogenic	2	189872289	189872289	G	A	criteria provided, single submitter	ClinGen:CA006301
single nucleotide variant	NM_000090.4(COL3A1):c.1662+1G>A	COL3A1	Pathogenic	2	189860905	189860905	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004403
single nucleotide variant	NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871170	189871170	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006168
single nucleotide variant	NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser)	COL3A1	Likely pathogenic	2	189868992	189868992	G	A	criteria provided, single submitter	ClinGen:CA005741