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.134G>A (p.Trp45Ter)	COL3A1	Pathogenic	2	189849540	189849540	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu)	COL3A1	Pathogenic	2	189859818	189859818	G	A	criteria provided, single submitter	-
Duplication	NC_000002.11:g.(?_189839196)_(189839314_?)dup	COL3A1	Pathogenic	2	189839196	189839314	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)	COL3A1	Pathogenic	2	189861145	189861145	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4011+1G>T	COL3A1	Pathogenic	2	189875092	189875092	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)	COL3A1	Pathogenic	2	189873651	189873651	G	A	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.2828del (p.Ala943fs)	COL3A1	Pathogenic	2	189868987	189868987	GC	G	criteria provided, single submitter	ClinGen:CA658796123
Deletion	NC_000002.12:g.(?_188974470)_(189580480_?)del	COL3A1	Pathogenic	2	189839196	190445206	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)	COL3A1	Pathogenic	2	189876366	189876366	G	T	criteria provided, single submitter	ClinGen:CA349850222
Indel	NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs)	COL3A1	Pathogenic	2	189875046	189875052	GAAGAAA	TT	criteria provided, single submitter	ClinGen:CA658796127