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
single nucleotide variant	NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48726898	48726898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016539
Deletion	NM_000138.5(FBN1):c.5066del (p.Asp1689fs)	FBN1	Pathogenic/Likely pathogenic	15	48755437	48755437	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015603
single nucleotide variant	NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)	FBN1	Likely pathogenic	15	48779272	48779272	C	G	criteria provided, single submitter	ClinGen:CA014329
single nucleotide variant	NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	FBN1	Pathogenic/Likely pathogenic	15	48779599	48779599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014004
single nucleotide variant	NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)	FBN1	Likely pathogenic	15	48782188	48782188	C	G	criteria provided, single submitter	ClinGen:CA013576
Duplication	NM_000138.5(FBN1):c.1335dup (p.Pro446fs)	FBN1	Pathogenic	15	48807716	48807717	G	GC	criteria provided, single submitter	ClinGen:CA012078
Deletion	NM_000138.5(FBN1):c.660del (p.Cys221fs)	FBN1	Pathogenic	15	48829884	48829884	AG	A	criteria provided, single submitter	ClinGen:CA016564
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>C	FBN1	Likely pathogenic	15	48936801	48936801	A	G	criteria provided, single submitter	ClinGen:CA012372
single nucleotide variant	NM_000138.5(FBN1):c.6739+2T>A	FBN1	Pathogenic	15	48725061	48725061	A	T	criteria provided, single submitter	ClinGen:CA016704
single nucleotide variant	NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)	FBN1	Likely pathogenic	15	48737629	48737629	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016122