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.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.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.962G>A (p.Gly321Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189856920	189856920	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007700
single nucleotide variant	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189856928	189856928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007720
single nucleotide variant	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189853344	189853344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007139,UniProtKB:P02461#VAR_011098
single nucleotide variant	NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189864268	189864268	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005171
single nucleotide variant	NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871170	189871170	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006168
single nucleotide variant	NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189872851	189872851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006533
single nucleotide variant	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189852825	189852825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006927,UniProtKB:P02461#VAR_011096,OMIM:120180.0027
single nucleotide variant	NM_000090.4(COL3A1):c.691-2A>G	COL3A1	Pathogenic	2	189854820	189854820	A	G	criteria provided, single submitter	-