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
Indel	NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs)	COL3A1	Pathogenic	2	189875046	189875052	GAAGAAA	TT	criteria provided, single submitter	ClinGen:CA658796127
single nucleotide variant	NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)	COL3A1	Pathogenic	2	189876366	189876366	G	T	criteria provided, single submitter	ClinGen:CA349850222
Insertion	NM_000090.4(COL3A1):c.1061_1062insTA (p.Pro355fs)	COL3A1	Likely pathogenic	2	189858097	189858098	G	GTA	criteria provided, single submitter	ClinGen:CA658796114
Deletion	NM_000090.4(COL3A1):c.1673_1722del (p.Gly558fs)	COL3A1	Likely pathogenic	2	189861132	189861181	AAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC	A	criteria provided, single submitter	ClinGen:CA658796117
Deletion	NC_000002.12:g.(?_188974470)_(189580480_?)del	COL3A1	Pathogenic	2	189839196	190445206	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)	COL3A1	Likely pathogenic	2	189854852	189854852	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349849021
single nucleotide variant	NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189856911	189856911	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349850075
Deletion	NM_000090.4(COL3A1):c.2828del (p.Ala943fs)	COL3A1	Pathogenic	2	189868987	189868987	GC	G	criteria provided, single submitter	ClinGen:CA658796123
single nucleotide variant	NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189870932	189870932	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349844889
single nucleotide variant	NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser)	COL3A1	Likely pathogenic	2	189861169	189861169	G	A	criteria provided, single submitter	ClinGen:CA349852713