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.3472G>C (p.Gly1158Arg)	COL3A1	Likely pathogenic	2	189872815	189872815	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006425
single nucleotide variant	NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)	COL3A1	Likely pathogenic	2	189872780	189872780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006417
Deletion	NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)	COL3A1	Likely pathogenic	2	189872774	189872800	CCCAGTGGACCTCCTGGCAAAGATGGAA	C	criteria provided, single submitter	-
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.3391G>A (p.Gly1131Ser)	COL3A1	Likely pathogenic	2	189872638	189872638	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006351
single nucleotide variant	NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp)	COL3A1	Likely pathogenic	2	189872326	189872326	G	A	criteria provided, single submitter	ClinGen:CA006338
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.3325C>T (p.Arg1109Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189872295	189872295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006314
single nucleotide variant	NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg)	COL3A1	Likely pathogenic	2	189872289	189872289	G	A	criteria provided, single submitter	ClinGen:CA006301
single nucleotide variant	NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val)	COL3A1	Likely pathogenic	2	189872236	189872236	G	T	criteria provided, single submitter	-