マルファン症候群

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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_000015.10:g.(?_48460226)_(48499058_?)del	FBN1	Pathogenic	15	48752423	48791255	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48596273)_(48613102_?)del	FBN1	Pathogenic	15	48888470	48905299	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6617-2A>C	FBN1	Likely pathogenic	15	48725187	48725187	T	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48415161)_(48415777_?)del	FBN1	Pathogenic	15	48707358	48707974	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48492451)_(48492596_?)del	FBN1	Pathogenic	15	48784648	48784793	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6872-961A>G	FBN1	Pathogenic/Likely pathogenic	15	48721629	48721629	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6871+1G>A	FBN1	Pathogenic	15	48722867	48722867	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5671+1G>T	FBN1	Pathogenic	15	48740964	48740964	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.737-17_740del	FBN1	Likely pathogenic	15	48826399	48826419	CACATCTGTCAGATTACAGAAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)	FBN1	Pathogenic	15	48830001	48830001	G	C	criteria provided, single submitter	-