血管型エーラス・ダンロス症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.2607+5G>T	COL3A1	Likely pathogenic	2	189868195	189868195	G	T	criteria provided, single submitter	ClinGen:CA005549
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.2771G>A (p.Gly924Asp)	COL3A1	Likely pathogenic	2	189868817	189868817	G	A	criteria provided, single submitter	ClinGen:CA005666
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.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.2824G>A (p.Gly942Arg)	COL3A1	Likely pathogenic	2	189868983	189868983	G	A	criteria provided, single submitter	ClinGen:CA005726
single nucleotide variant	NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)	COL3A1	Likely pathogenic	2	189864214	189864214	G	A	criteria provided, single submitter	ClinGen:CA005093
single nucleotide variant	NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)	COL3A1	Likely pathogenic	2	189872834	189872834	G	A	criteria provided, single submitter	ClinGen:CA006480,UniProtKB:P02461#VAR_011155
single nucleotide variant	NM_000090.4(COL3A1):c.2022+2T>C	COL3A1	Pathogenic	2	189863446	189863446	T	C	criteria provided, single submitter	ClinGen:CA004869
single nucleotide variant	NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)	COL3A1	Pathogenic	2	189855731	189855731	G	T	criteria provided, single submitter	ClinGen:CA007456,UniProtKB:P02461#VAR_011112