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.2078G>C (p.Gly693Ala)	COL3A1	Likely pathogenic	2	189864066	189864066	G	C	criteria provided, single submitter	ClinGen:CA004970
single nucleotide variant	NM_000090.4(COL3A1):c.3417+1G>A	COL3A1	Pathogenic	2	189872665	189872665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006363
single nucleotide variant	NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp)	COL3A1	Likely pathogenic	2	189868817	189868817	G	A	criteria provided, single submitter	ClinGen:CA005666
Deletion	NM_000090.4(COL3A1):c.555del (p.Gly186fs)	COL3A1	Pathogenic	2	189852833	189852833	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006973
single nucleotide variant	NM_000090.4(COL3A1):c.2607+5G>T	COL3A1	Likely pathogenic	2	189868195	189868195	G	T	criteria provided, single submitter	ClinGen:CA005549
single nucleotide variant	NM_000090.4(COL3A1):c.2337G>A (p.Lys779=)	COL3A1	Likely pathogenic	2	189866176	189866176	G	A	criteria provided, single submitter	ClinGen:CA005337
single nucleotide variant	NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)	COL3A1	Pathogenic	2	189855043	189855043	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007381,UniProtKB:P02461#VAR_011109
single nucleotide variant	NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys)	COL3A1	Likely pathogenic	2	189868816	189868816	G	T	criteria provided, single submitter	ClinGen:CA005659,UniProtKB:P02461#VAR_011140
single nucleotide variant	NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu)	COL3A1	Likely pathogenic	2	189859782	189859782	G	A	criteria provided, single submitter	ClinGen:CA004303,UniProtKB:P02461#VAR_011118
single nucleotide variant	NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val)	COL3A1	Likely pathogenic	2	189861937	189861937	G	T	criteria provided, single submitter	ClinGen:CA004553