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
Deletion	NC_000002.12:g.(?_188974470)_(189580480_?)del	COL3A1	Pathogenic	2	189839196	190445206	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter)	COL3A1	Pathogenic	2	189876459	189876459	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)	COL3A1	Pathogenic	2	189876366	189876366	G	T	criteria provided, single submitter	ClinGen:CA349850222
Deletion	NM_000090.4(COL3A1):c.4180_4189del (p.Gly1394fs)	COL3A1	Pathogenic	2	189875539	189875548	GATGGGGTCAA	G	criteria provided, single submitter	ClinGen:CA006841
single nucleotide variant	NM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg)	COL3A1	Likely pathogenic	2	189875537	189875537	T	G	criteria provided, single submitter	ClinGen:CA349849556
single nucleotide variant	NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)	COL3A1	Likely pathogenic	2	189875458	189875458	C	T	criteria provided, single submitter	ClinGen:CA320388
single nucleotide variant	NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189875449	189875449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006824
single nucleotide variant	NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)	COL3A1	Pathogenic	2	189875434	189875434	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006806
single nucleotide variant	NM_000090.4(COL3A1):c.4012-2A>G	COL3A1	Likely pathogenic	2	189875372	189875372	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.4011+1G>T	COL3A1	Pathogenic	2	189875092	189875092	G	T	criteria provided, single submitter	-