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.3257G>T (p.Gly1086Val)	COL3A1	Pathogenic	2	189872227	189872227	G	T	criteria provided, single submitter	ClinGen:CA16610641
Deletion	NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG	COL3A1	Likely pathogenic	2	189872223	189872232	AAAGGGTCCTC	A	criteria provided, single submitter	ClinGen:CA645372374
single nucleotide variant	NM_000090.4(COL3A1):c.3255+1G>C	COL3A1	Pathogenic	2	189871717	189871717	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189871690	189871690	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587541
single nucleotide variant	NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)	COL3A1	Likely pathogenic	2	189871663	189871663	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.3202-2A>G	COL3A1	Likely pathogenic	2	189871661	189871661	A	G	criteria provided, single submitter	ClinGen:CA006180
single nucleotide variant	NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)	COL3A1	Pathogenic	2	189871171	189871171	G	A	criteria provided, single submitter	ClinGen:CA349845199
single nucleotide variant	NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871170	189871170	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006168
single nucleotide variant	NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp)	COL3A1	Likely pathogenic	2	189871144	189871144	G	A	criteria provided, single submitter	ClinGen:CA006156
single nucleotide variant	NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189871089	189871089	G	C	criteria provided, multiple submitters, no conflicts	-