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.4175T>G (p.Leu1392Arg)	COL3A1	Likely pathogenic	2	189875537	189875537	T	G	criteria provided, single submitter	ClinGen:CA349849556
single nucleotide variant	NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)	COL3A1	Likely pathogenic	2	189868808	189868808	G	A	criteria provided, single submitter	ClinGen:CA349844094
Deletion	NM_000090.4(COL3A1):c.608del (p.Pro203fs)	COL3A1	Pathogenic	2	189853337	189853337	AC	A	criteria provided, single submitter	ClinGen:CA658657183
single nucleotide variant	NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)	COL3A1	Likely pathogenic	2	189859800	189859800	G	A	criteria provided, single submitter	ClinGen:CA349852021
single nucleotide variant	NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)	COL3A1	Likely pathogenic	2	189871080	189871080	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349845022
single nucleotide variant	NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189872843	189872843	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349846513
single nucleotide variant	NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)	COL3A1	Likely pathogenic	2	189873705	189873705	G	A	criteria provided, single submitter	ClinGen:CA349846675
single nucleotide variant	NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)	COL3A1	Pathogenic	2	189853352	189853352	G	T	criteria provided, single submitter	ClinGen:CA349848382
single nucleotide variant	NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)	COL3A1	Pathogenic	2	189871171	189871171	G	A	criteria provided, single submitter	ClinGen:CA349845199
single nucleotide variant	NM_000090.4(COL3A1):c.584G>T (p.Gly195Val)	COL3A1	Likely pathogenic	2	189853317	189853317	G	T	criteria provided, single submitter	ClinGen:CA349848315