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.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.2569C>T (p.Gln857Ter)	COL3A1	Pathogenic	2	189868152	189868152	C	T	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.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.3112G>C (p.Gly1038Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871089	189871089	G	C	criteria provided, multiple submitters, no conflicts	-
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.80-1G>C	COL3A1	Likely pathogenic	2	189849485	189849485	G	C	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	-