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
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.2283+1G>A	COL3A1	Likely pathogenic	2	189864622	189864622	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.3527G>A (p.Gly1176Asp)	COL3A1	Pathogenic	2	189873651	189873651	G	A	criteria provided, single submitter	-
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.1708G>A (p.Gly570Ser)	COL3A1	Likely pathogenic	2	189861169	189861169	G	A	criteria provided, single submitter	ClinGen:CA349852713
single nucleotide variant	NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189870932	189870932	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349844889
Deletion	NM_000090.4(COL3A1):c.2828del (p.Ala943fs)	COL3A1	Pathogenic	2	189868987	189868987	GC	G	criteria provided, single submitter	ClinGen:CA658796123
single nucleotide variant	NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189856911	189856911	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349850075
single nucleotide variant	NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)	COL3A1	Likely pathogenic	2	189854852	189854852	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349849021