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.1502G>A (p.Gly501Glu)	COL3A1	Pathogenic	2	189859818	189859818	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)	COL3A1	Pathogenic	2	189849540	189849540	G	A	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.2392-3_2395del	COL3A1	Pathogenic	2	189867021	189867027	TCAGGGTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter)	COL3A1	Pathogenic	2	189868152	189868152	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)	COL3A1	Likely pathogenic	2	189871663	189871663	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.4012-2A>G	COL3A1	Likely pathogenic	2	189875372	189875372	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val)	COL3A1	Pathogenic	2	189864084	189864084	G	T	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.2102del (p.Pro701fs)	COL3A1	Pathogenic	2	189864086	189864086	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1	Pathogenic	2	189859047	189859047	C	T	criteria provided, multiple submitters, no conflicts	OMIM:120180.0037
single nucleotide variant	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)	COL3A1	Likely pathogenic	2	189849551	189849551	C	G	criteria provided, multiple submitters, no conflicts	OMIM:120180.0039