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
single nucleotide variant	NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)	COL3A1	Likely pathogenic	2	189856249	189856249	G	A	criteria provided, single submitter	ClinGen:CA349849940,OMIM:120180.0031
single nucleotide variant	NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala)	COL3A1	Likely pathogenic	2	189861152	189861152	G	C	criteria provided, single submitter	ClinGen:CA004438
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.2823+1G>A	COL3A1	Likely pathogenic	2	189868870	189868870	G	A	criteria provided, single submitter	ClinGen:CA005713
single nucleotide variant	NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)	COL3A1	Pathogenic	2	189855731	189855731	G	T	criteria provided, single submitter	ClinGen:CA007456,UniProtKB:P02461#VAR_011112
single nucleotide variant	NM_000090.4(COL3A1):c.2022+2T>C	COL3A1	Pathogenic	2	189863446	189863446	T	C	criteria provided, single submitter	ClinGen:CA004869
single nucleotide variant	NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu)	COL3A1	Likely pathogenic	2	189872834	189872834	G	A	criteria provided, single submitter	ClinGen:CA006480,UniProtKB:P02461#VAR_011155
single nucleotide variant	NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg)	COL3A1	Likely pathogenic	2	189864214	189864214	G	A	criteria provided, single submitter	ClinGen:CA005093
single nucleotide variant	NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg)	COL3A1	Likely pathogenic	2	189868983	189868983	G	A	criteria provided, single submitter	ClinGen:CA005726