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.547G>A (p.Gly183Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189852825	189852825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006927,UniProtKB:P02461#VAR_011096,OMIM:120180.0027
Deletion	NM_000090.4(COL3A1):c.555del (p.Gly186fs)	COL3A1	Pathogenic	2	189852833	189852833	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006973
single nucleotide variant	NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser)	COL3A1	Likely pathogenic	2	189852843	189852843	G	A	criteria provided, single submitter	ClinGen:CA007000
single nucleotide variant	NM_000090.4(COL3A1):c.582+1G>C	COL3A1	Likely pathogenic	2	189852861	189852861	G	C	criteria provided, single submitter	ClinGen:CA007027
single nucleotide variant	NM_000090.4(COL3A1):c.582+5G>A	COL3A1	Pathogenic/Likely pathogenic	2	189852865	189852865	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007049,OMIM:120180.0032
single nucleotide variant	NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg)	COL3A1	Likely pathogenic	2	189853316	189853316	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.584G>T (p.Gly195Val)	COL3A1	Likely pathogenic	2	189853317	189853317	G	T	criteria provided, single submitter	ClinGen:CA349848315
single nucleotide variant	NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)	COL3A1	Likely pathogenic	2	189853326	189853326	G	A	criteria provided, single submitter	ClinGen:CA007113
Deletion	NM_000090.4(COL3A1):c.608del (p.Pro203fs)	COL3A1	Pathogenic	2	189853337	189853337	AC	A	criteria provided, single submitter	ClinGen:CA658657183
single nucleotide variant	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189853344	189853344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007139,UniProtKB:P02461#VAR_011098