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
Deletion	NC_000002.12:g.(?_188974470)_(189580480_?)del	COL3A1	Pathogenic	2	189839196	190445206	na	na	criteria provided, single submitter	-
Duplication	NC_000002.11:g.(?_189839196)_(189839314_?)dup	COL3A1	Pathogenic	2	189839196	189839314	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.80-1G>C	COL3A1	Likely pathogenic	2	189849485	189849485	G	C	criteria provided, single submitter	-
Deletion	NM_000090.4(COL3A1):c.81del (p.Val28fs)	COL3A1	Pathogenic	2	189849487	189849487	CT	C	criteria provided, single submitter	ClinGen:CA16610629
single nucleotide variant	NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)	COL3A1	Pathogenic	2	189849540	189849540	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)	COL3A1	Likely pathogenic	2	189849551	189849551	C	G	criteria provided, multiple submitters, no conflicts	OMIM:120180.0039
single nucleotide variant	NM_000090.4(COL3A1):c.282+1G>C	COL3A1	Likely pathogenic	2	189849689	189849689	G	C	criteria provided, single submitter	ClinGen:CA349847467
single nucleotide variant	NM_000090.4(COL3A1):c.447+1G>A	COL3A1	Likely pathogenic	2	189850505	189850505	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.528+5G>C	COL3A1	Likely pathogenic	2	189851870	189851870	G	C	criteria provided, single submitter	ClinGen:CA006907
Duplication	NC_000002.11:g.(?_189852807)_(189855783_?)dup	COL3A1	Likely pathogenic	2	189852807	189855783	na	na	criteria provided, single submitter	-