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.3527G>A (p.Gly1176Asp)	COL3A1	Pathogenic	2	189873651	189873651	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)	COL3A1	Likely pathogenic	2	189872861	189872861	G	A	criteria provided, single submitter	ClinGen:CA006567,UniProtKB:P02461#VAR_001801,OMIM:120180.0016
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
Indel	NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu)	COL3A1	Pathogenic	2	189872843	189872844	GT	AA	criteria provided, single submitter	ClinGen:CA10587539
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.3499G>A (p.Gly1167Ser)	COL3A1	Pathogenic	2	189872842	189872842	G	A	criteria provided, single submitter	ClinGen:CA16617395
single nucleotide variant	NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys)	COL3A1	Likely pathogenic	2	189872842	189872842	G	T	criteria provided, single submitter	ClinGen:CA006513
single nucleotide variant	NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)	COL3A1	Likely pathogenic	2	189872842	189872842	G	C	criteria provided, single submitter	ClinGen:CA006503
single nucleotide variant	NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	COL3A1	Likely pathogenic	2	189872839	189872839	C	T	criteria provided, single submitter	ClinGen:CA006495
single nucleotide variant	NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)	COL3A1	Likely pathogenic	2	189872834	189872834	G	A	criteria provided, single submitter	ClinGen:CA006480,UniProtKB:P02461#VAR_011155