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.3229G>A (p.Gly1077Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189871690	189871690	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587541
single nucleotide variant	NM_000090.4(COL3A1):c.3544G>C (p.Gly1182Arg)	COL3A1	Pathogenic	2	189873668	189873668	G	C	criteria provided, single submitter	ClinGen:CA10602846
single nucleotide variant	NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)	COL3A1	Pathogenic	2	189859787	189859787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042424
single nucleotide variant	NM_000090.4(COL3A1):c.897+1G>A	COL3A1	Pathogenic/Likely pathogenic	2	189856258	189856258	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042456
single nucleotide variant	NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	COL3A1	Pathogenic	2	189855742	189855742	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603961
single nucleotide variant	NM_000090.4(COL3A1):c.1106G>A (p.Gly369Glu)	COL3A1	Pathogenic	2	189858142	189858142	G	A	criteria provided, single submitter	ClinGen:CA16603962
single nucleotide variant	NM_000090.4(COL3A1):c.1484G>C (p.Gly495Ala)	COL3A1	Likely pathogenic	2	189859800	189859800	G	C	criteria provided, single submitter	ClinGen:CA16603965
single nucleotide variant	NM_000090.4(COL3A1):c.2123G>C (p.Gly708Ala)	COL3A1	Pathogenic	2	189864197	189864197	G	C	criteria provided, single submitter	ClinGen:CA16604062
single nucleotide variant	NM_000090.4(COL3A1):c.2608-2A>C	COL3A1	Likely pathogenic	2	189868458	189868458	A	C	criteria provided, single submitter	ClinGen:CA16604274
Duplication	NC_000002.11:g.(?_189852807)_(189855783_?)dup	COL3A1	Likely pathogenic	2	189852807	189855783	na	na	criteria provided, single submitter	-