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.5504_5505del (p.Asp1834_Cys1835insTer)	FBN1	Likely pathogenic	15	48744799	48744800	TAC	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.4927dup (p.Thr1643fs)	FBN1	Likely pathogenic	15	48757779	48757780	G	GT	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.4700del (p.Gly1567fs)	FBN1	Likely pathogenic	15	48760182	48760182	AC	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)	FBN1	Pathogenic/Likely pathogenic	15	48762941	48762941	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3290G>T (p.Cys1097Phe)	FBN1	Likely pathogenic	15	48780357	48780357	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.950del (p.Pro317fs)	FBN1	Likely pathogenic	15	48818365	48818365	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5423-2A>G	FBN1	Pathogenic	15	48744883	48744883	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2539+1G>T	FBN1	Likely pathogenic	15	48787665	48787665	C	A	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.236dup (p.Cys80fs)	FBN1	Pathogenic	15	48905217	48905218	C	CT	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs)	FBN1	Likely pathogenic	15	48714221	48714228	ATAGGAAC	CATTGTGTTGTTTGGTTGTGTTGCT	criteria provided, single submitter	-