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.2356G>A (p.Gly786Arg)	COL3A1	Pathogenic	2	189866280	189866280	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005350,UniProtKB:P02461#VAR_001782,OMIM:120180.0002
single nucleotide variant	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Pathogenic	2	189859321	189859321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004237,OMIM:120180.0004
single nucleotide variant	NM_000090.4(COL3A1):c.1149+1G>A	COL3A1	Pathogenic	2	189858186	189858186	G	A	criteria provided, single submitter	ClinGen:CA004082,OMIM:120180.0005
single nucleotide variant	NM_000090.4(COL3A1):c.2553+5G>T	COL3A1	Likely pathogenic	2	189867793	189867793	G	T	criteria provided, single submitter	ClinGen:CA005487,OMIM:120180.0008
single nucleotide variant	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Likely pathogenic	2	189855034	189855034	G	A	criteria provided, single submitter	ClinGen:CA007350,UniProtKB:P02461#VAR_011105,OMIM:120180.0028
single nucleotide variant	NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)	COL3A1	Likely pathogenic	2	189873678	189873678	G	A	criteria provided, single submitter	ClinGen:CA006649,UniProtKB:P02461#VAR_001804,OMIM:120180.0015
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.1997G>A (p.Gly666Asp)	COL3A1	Likely pathogenic	2	189863419	189863419	G	A	criteria provided, single submitter	ClinGen:CA004844,UniProtKB:P02461#VAR_001777,OMIM:120180.0022
single nucleotide variant	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Pathogenic	2	189861205	189861205	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004446,UniProtKB:P02461#VAR_001774,OMIM:120180.0024
single nucleotide variant	NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser)	COL3A1	Pathogenic	2	189864286	189864286	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005185,UniProtKB:P02461#VAR_011129,OMIM:120180.0026