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.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.2096G>A (p.Gly699Asp)	COL3A1	Pathogenic	2	189864084	189864084	G	A	criteria provided, single submitter	ClinGen:CA005001
single nucleotide variant	NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)	COL3A1	Likely pathogenic	2	189872815	189872815	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006425
single nucleotide variant	NM_000090.4(COL3A1):c.1869+5G>T	COL3A1	Pathogenic	2	189862120	189862120	G	T	criteria provided, single submitter	ClinGen:CA004663
single nucleotide variant	NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp)	COL3A1	Pathogenic	2	189868781	189868781	G	A	criteria provided, single submitter	ClinGen:CA005640
single nucleotide variant	NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu)	COL3A1	Likely pathogenic	2	189872825	189872825	G	A	criteria provided, single submitter	ClinGen:CA006440
single nucleotide variant	NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)	COL3A1	Likely pathogenic	2	189869073	189869073	G	A	criteria provided, single submitter	ClinGen:CA005842
single nucleotide variant	NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)	COL3A1	Likely pathogenic	2	189858765	189858765	G	T	criteria provided, single submitter	ClinGen:CA004106
single nucleotide variant	NM_000090.4(COL3A1):c.528+5G>C	COL3A1	Likely pathogenic	2	189851870	189851870	G	C	criteria provided, single submitter	ClinGen:CA006907
single nucleotide variant	NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser)	COL3A1	Likely pathogenic	2	189852843	189852843	G	A	criteria provided, single submitter	ClinGen:CA007000