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.1024G>A (p.Gly342Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189857640	189857640	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004027
single nucleotide variant	NM_000090.4(COL3A1):c.1223G>A (p.Gly408Glu)	COL3A1	Likely pathogenic	2	189858988	189858988	G	A	criteria provided, single submitter	ClinGen:CA004140
single nucleotide variant	NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)	COL3A1	Likely pathogenic	2	189859006	189859006	G	T	criteria provided, single submitter	ClinGen:CA004160
single nucleotide variant	NM_000090.4(COL3A1):c.2132G>T (p.Gly711Val)	COL3A1	Likely pathogenic	2	189864206	189864206	G	T	criteria provided, single submitter	ClinGen:CA005086
single nucleotide variant	NM_000090.4(COL3A1):c.2338-2A>G	COL3A1	Pathogenic	2	189866260	189866260	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005344
single nucleotide variant	NM_000090.4(COL3A1):c.2464G>A (p.Gly822Ser)	COL3A1	Likely pathogenic	2	189867699	189867699	G	A	criteria provided, single submitter	ClinGen:CA005398
single nucleotide variant	NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189868735	189868735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005604
single nucleotide variant	NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)	COL3A1	Likely pathogenic	2	189872236	189872236	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3329G>A (p.Gly1110Glu)	COL3A1	Likely pathogenic	2	189872299	189872299	G	A	criteria provided, single submitter	ClinGen:CA006327
single nucleotide variant	NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)	COL3A1	Pathogenic	2	189875434	189875434	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006806