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.2753G>A (p.Gly918Glu)	COL3A1	Pathogenic	2	189868799	189868799	G	A	criteria provided, single submitter	UniProtKB:P02461#VAR_011139,ClinGen:CA005646
single nucleotide variant	NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg)	COL3A1	Pathogenic	2	189869046	189869046	G	C	criteria provided, single submitter	ClinGen:CA005799
single nucleotide variant	NM_000090.4(COL3A1):c.2553+1G>A	COL3A1	Pathogenic	2	189867789	189867789	G	A	criteria provided, single submitter	ClinGen:CA005463
single nucleotide variant	NM_000090.4(COL3A1):c.582+5G>A	COL3A1	Pathogenic/Likely pathogenic	2	189852865	189852865	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007049,OMIM:120180.0032
single nucleotide variant	NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189872295	189872295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006314
single nucleotide variant	NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)	COL3A1	Likely pathogenic	2	189857614	189857614	G	A	criteria provided, single submitter	ClinGen:CA007778
single nucleotide variant	NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg)	COL3A1	Likely pathogenic	2	189869019	189869019	G	A	criteria provided, single submitter	ClinGen:CA005755
single nucleotide variant	NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val)	COL3A1	Pathogenic/Likely pathogenic	2	189863410	189863410	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004836
single nucleotide variant	NM_000090.4(COL3A1):c.3202-2A>G	COL3A1	Likely pathogenic	2	189871661	189871661	A	G	criteria provided, single submitter	ClinGen:CA006180
single nucleotide variant	NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val)	COL3A1	Pathogenic	2	189869029	189869029	G	T	criteria provided, single submitter	ClinGen:CA005782