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.4087C>T (p.Arg1363Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189875449	189875449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006824
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.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.754G>T (p.Gly252Cys)	COL3A1	Pathogenic/Likely pathogenic	2	189855042	189855042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576585
single nucleotide variant	NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu)	COL3A1	Likely pathogenic	2	189869002	189869002	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581907
single nucleotide variant	NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp)	COL3A1	Likely pathogenic	2	189859006	189859006	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587529
single nucleotide variant	NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp)	COL3A1	Likely pathogenic	2	189861188	189861188	G	A	criteria provided, single submitter	ClinGen:CA10587530
single nucleotide variant	NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)	COL3A1	Likely pathogenic	2	189859276	189859276	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587531
Indel	NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu)	COL3A1	Pathogenic	2	189872843	189872844	GT	AA	criteria provided, single submitter	ClinGen:CA10587539
Deletion	NM_000090.4(COL3A1):c.2642del (p.Pro881fs)	COL3A1	Pathogenic	2	189868493	189868493	TC	T	criteria provided, single submitter	ClinGen:CA10587540