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.1978-1G>C	COL3A1	Likely pathogenic	2	189863399	189863399	G	C	criteria provided, single submitter	ClinGen:CA16617392
single nucleotide variant	NM_000090.4(COL3A1):c.2582G>A (p.Gly861Asp)	COL3A1	Likely pathogenic	2	189868165	189868165	G	A	criteria provided, single submitter	ClinGen:CA16617393
single nucleotide variant	NM_000090.4(COL3A1):c.3499G>A (p.Gly1167Ser)	COL3A1	Pathogenic	2	189872842	189872842	G	A	criteria provided, single submitter	ClinGen:CA16617395
single nucleotide variant	NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)	COL3A1	Likely pathogenic	2	189868798	189868798	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349844050
single nucleotide variant	NM_000090.4(COL3A1):c.2996G>T (p.Gly999Val)	COL3A1	Likely pathogenic	2	189870140	189870140	G	T	criteria provided, single submitter	ClinGen:CA349844797
single nucleotide variant	NM_000090.4(COL3A1):c.282+1G>C	COL3A1	Likely pathogenic	2	189849689	189849689	G	C	criteria provided, single submitter	ClinGen:CA349847467
single nucleotide variant	NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys)	COL3A1	Pathogenic	2	189864295	189864295	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349840969
Deletion	NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG	COL3A1	Likely pathogenic	2	189872223	189872232	AAAGGGTCCTC	A	criteria provided, single submitter	ClinGen:CA645372374
single nucleotide variant	NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg)	COL3A1	Likely pathogenic	2	189870941	189870941	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349844907
single nucleotide variant	NM_000090.4(COL3A1):c.3077G>T (p.Gly1026Val)	COL3A1	Likely pathogenic	2	189870969	189870969	G	T	criteria provided, single submitter	ClinGen:CA349844964