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.674G>C (p.Gly225Ala)	COL3A1	Pathogenic/Likely pathogenic	2	189854159	189854159	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007233
single nucleotide variant	NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)	COL3A1	Pathogenic	2	189854150	189854150	G	A	criteria provided, single submitter	ClinGen:CA007217
single nucleotide variant	NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)	COL3A1	Pathogenic	2	189854150	189854150	G	T	criteria provided, single submitter	ClinGen:CA007226
single nucleotide variant	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	Likely pathogenic	2	189854132	189854132	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007188
single nucleotide variant	NM_000090.4(COL3A1):c.636+5G>A	COL3A1	Pathogenic	2	189853374	189853374	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007173
single nucleotide variant	NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter)	COL3A1	Likely pathogenic	2	189853355	189853355	C	T	criteria provided, single submitter	-
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.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
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.593G>A (p.Gly198Glu)	COL3A1	Likely pathogenic	2	189853326	189853326	G	A	criteria provided, single submitter	ClinGen:CA007113