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.2553+5G>T	COL3A1	Likely pathogenic	2	189867793	189867793	G	T	criteria provided, single submitter	ClinGen:CA005487,OMIM:120180.0008
single nucleotide variant	NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Likely pathogenic	2	189855034	189855034	G	A	criteria provided, single submitter	ClinGen:CA007350,UniProtKB:P02461#VAR_011105,OMIM:120180.0028
single nucleotide variant	NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp)	COL3A1	Likely pathogenic	2	189873678	189873678	G	A	criteria provided, single submitter	ClinGen:CA006649,UniProtKB:P02461#VAR_001804,OMIM:120180.0015
single nucleotide variant	NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)	COL3A1	Likely pathogenic	2	189872861	189872861	G	A	criteria provided, single submitter	ClinGen:CA006567,UniProtKB:P02461#VAR_001801,OMIM:120180.0016
single nucleotide variant	NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)	COL3A1	Likely pathogenic	2	189863419	189863419	G	A	criteria provided, single submitter	ClinGen:CA004844,UniProtKB:P02461#VAR_001777,OMIM:120180.0022
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.3491G>A (p.Gly1164Glu)	COL3A1	Likely pathogenic	2	189872834	189872834	G	A	criteria provided, single submitter	ClinGen:CA006480,UniProtKB:P02461#VAR_011155