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.845G>T (p.Gly282Val)	COL3A1	Pathogenic	2	189855776	189855776	G	T	criteria provided, single submitter	-
Duplication	NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)	COL3A1	Pathogenic/Likely pathogenic	2	189856433	189856434	A	ACT	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)	COL3A1	Likely pathogenic	2	189862097	189862101	GGGAC	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)	COL3A1	Likely pathogenic	2	189863418	189863418	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu)	COL3A1	Pathogenic	2	189864039	189864039	G	A	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del)	COL3A1	Likely pathogenic	2	189864052	189864057	TGGCAGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp)	COL3A1	Likely pathogenic	2	189864233	189864233	G	A	criteria provided, single submitter	-
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.4360C>T (p.Gln1454Ter)	COL3A1	Pathogenic	2	189876459	189876459	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3255+1G>C	COL3A1	Pathogenic	2	189871717	189871717	G	C	criteria provided, single submitter	-