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.1073G>A (p.Cys358Tyr)	FBN1	Likely pathogenic	15	48812930	48812930	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)	FBN1	Likely pathogenic	15	48812973	48812973	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)	FBN1	Pathogenic	15	48812997	48812997	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.989-1G>C	FBN1	Pathogenic	15	48813015	48813015	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.772C>T (p.Gln258Ter)	FBN1	Pathogenic	15	48826367	48826367	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.680_690del (p.Gln227fs)	FBN1	Pathogenic	15	48829854	48829864	AGGGGTGAGGCT	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer)	FBN1	Pathogenic	15	48829883	48829884	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)	FBN1	Pathogenic	15	48829918	48829918	C	G	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.619dup (p.Thr207fs)	FBN1	Pathogenic	15	48829924	48829925	G	GT	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.577del (p.Gln193fs)	FBN1	Pathogenic	15	48829967	48829967	TG	T	criteria provided, single submitter	-