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.1196G>C (p.Gly399Ala)	COL3A1	Likely pathogenic	2	189858961	189858961	G	C	criteria provided, single submitter	ClinGen:CA16610545
single nucleotide variant	NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)	COL3A1	Likely pathogenic	2	189856441	189856441	G	T	criteria provided, single submitter	ClinGen:CA16610591
Deletion	NM_000090.4(COL3A1):c.1652del (p.Pro551fs)	COL3A1	Pathogenic	2	189860893	189860893	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610593
single nucleotide variant	NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter)	COL3A1	Pathogenic	2	189874913	189874913	G	A	criteria provided, single submitter	ClinGen:CA16610602
Deletion	NM_000090.4(COL3A1):c.81del (p.Val28fs)	COL3A1	Pathogenic	2	189849487	189849487	CT	C	criteria provided, single submitter	ClinGen:CA16610629
single nucleotide variant	NM_000090.4(COL3A1):c.1294-1G>C	COL3A1	Likely pathogenic	2	189859266	189859266	G	C	criteria provided, single submitter	ClinGen:CA16610632
single nucleotide variant	NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val)	COL3A1	Pathogenic	2	189872227	189872227	G	T	criteria provided, single submitter	ClinGen:CA16610641
single nucleotide variant	NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp)	COL3A1	Likely pathogenic	2	189866151	189866151	G	A	criteria provided, single submitter	ClinGen:CA16610666
single nucleotide variant	NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)	COL3A1	Likely pathogenic	2	189858969	189858969	G	A	criteria provided, single submitter	ClinGen:CA16617389
single nucleotide variant	NM_000090.4(COL3A1):c.1222G>A (p.Gly408Arg)	COL3A1	Pathogenic	2	189858987	189858987	G	A	criteria provided, single submitter	ClinGen:CA16617390