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.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.582+1G>C	COL3A1	Likely pathogenic	2	189852861	189852861	G	C	criteria provided, single submitter	ClinGen:CA007027
single nucleotide variant	NM_000090.4(COL3A1):c.1761+5G>A	COL3A1	Likely pathogenic	2	189861227	189861227	G	A	criteria provided, single submitter	ClinGen:CA004475
single nucleotide variant	NM_000090.4(COL3A1):c.2337+2T>C	COL3A1	Pathogenic	2	189866178	189866178	T	C	criteria provided, single submitter	ClinGen:CA005327
single nucleotide variant	NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)	COL3A1	Pathogenic	2	189854150	189854150	G	T	criteria provided, single submitter	ClinGen:CA007226
single nucleotide variant	NM_000090.4(COL3A1):c.1150-1G>C	COL3A1	Pathogenic	2	189858763	189858763	G	C	criteria provided, single submitter	ClinGen:CA004101
single nucleotide variant	NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)	COL3A1	Pathogenic	2	189861915	189861915	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004524,OMIM:120180.0035,ClinVar:101229
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.1808G>A (p.Gly603Asp)	COL3A1	Pathogenic	2	189861937	189861937	G	A	criteria provided, single submitter	ClinGen:CA004546
single nucleotide variant	NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)	COL3A1	Likely pathogenic	2	189858996	189858996	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004145