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
Indel	NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs)	COL3A1	Pathogenic	2	189875046	189875052	GAAGAAA	TT	criteria provided, single submitter	ClinGen:CA658796127
single nucleotide variant	NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu)	COL3A1	Likely pathogenic	2	189874931	189874931	G	A	criteria provided, single submitter	OMIM:120180.0036,ClinVar:101229
single nucleotide variant	NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)	COL3A1	Pathogenic	2	189874913	189874913	G	A	criteria provided, single submitter	ClinGen:CA16610602
single nucleotide variant	NM_000090.4(COL3A1):c.3823+1G>T	COL3A1	Likely pathogenic	2	189873948	189873948	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)	COL3A1	Likely pathogenic	2	189873705	189873705	G	A	criteria provided, single submitter	ClinGen:CA349846675
single nucleotide variant	NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp)	COL3A1	Likely pathogenic	2	189873696	189873696	G	A	criteria provided, single submitter	ClinGen:CA006679
single nucleotide variant	NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg)	COL3A1	Pathogenic	2	189873686	189873686	G	A	criteria provided, single submitter	ClinGen:CA006665,UniProtKB:P02461#VAR_001807
single nucleotide variant	NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)	COL3A1	Likely pathogenic	2	189873678	189873678	G	A	criteria provided, single submitter	ClinGen:CA006649,UniProtKB:P02461#VAR_001804,OMIM:120180.0015
single nucleotide variant	NM_000090.4(COL3A1):c.3544G>C (p.Gly1182Arg)	COL3A1	Pathogenic	2	189873668	189873668	G	C	criteria provided, single submitter	ClinGen:CA10602846
single nucleotide variant	NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)	COL3A1	Likely pathogenic	2	189873660	189873660	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006617