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.1744G>T (p.Gly582Cys)	COL3A1	Likely pathogenic	2	189861205	189861205	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	-
single nucleotide variant	NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)	COL3A1	Likely pathogenic	2	189862453	189862453	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2283+1G>A	COL3A1	Likely pathogenic	2	189864622	189864622	G	A	criteria provided, single submitter	-
Indel	NM_000090.4(COL3A1):c.3094-10_3094delinsGT	COL3A1	Likely pathogenic	2	189871061	189871071	TTGTTCACAGG	GT	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.80-1G>C	COL3A1	Likely pathogenic	2	189849485	189849485	G	C	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.3112G>C (p.Gly1038Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871089	189871089	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000002.11:g.(?_189839196)_(189839314_?)dup	COL3A1	Pathogenic	2	189839196	189839314	na	na	criteria provided, single submitter	-