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	NM_000138.5(FBN1):c.6927del (p.Asn2309fs)	FBN1	Likely pathogenic	15	48720613	48720613	TG	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)	FBN1	Pathogenic	15	48720607	48720608	A	AC	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs)	FBN1	Pathogenic	15	48720596	48720597	G	GTGTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)	FBN1	Pathogenic	15	48720593	48720593	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter)	FBN1	Pathogenic	15	48720592	48720592	A	T	criteria provided, single submitter	ClinGen:CA16614404
single nucleotide variant	NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)	FBN1	Pathogenic	15	48720588	48720588	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)	FBN1	Pathogenic	15	48720587	48720587	C	T	criteria provided, single submitter	ClinGen:CA392330600
Duplication	NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter)	FBN1	Pathogenic	15	48720585	48720586	T	TA	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6963del (p.Phe2322fs)	FBN1	Pathogenic	15	48720577	48720577	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614504
Deletion	NM_000138.5(FBN1):c.6966del (p.Phe2322fs)	FBN1	Pathogenic	15	48720574	48720574	TA	T	criteria provided, single submitter	ClinGen:CA658798047