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.6800del (p.Asn2267fs)	FBN1	Pathogenic	15	48722939	48722939	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6740-3C>G	FBN1	Likely pathogenic	15	48723002	48723002	G	C	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.5422_5422+1delinsTT	FBN1	Likely pathogenic	15	48748833	48748834	CC	AA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter)	FBN1	Pathogenic	15	48757796	48757796	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg)	FBN1	Pathogenic/Likely pathogenic	15	48762942	48762942	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.3337+1del	FBN1	Pathogenic	15	48780309	48780309	AC	A	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.2728_2728+1delinsAA	FBN1	Likely pathogenic	15	48786400	48786401	CC	TT	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer)	FBN1	Pathogenic	15	48787731	48787734	GGGC	TTTATT	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2340del (p.Gln780fs)	FBN1	Pathogenic	15	48788376	48788376	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter)	FBN1	Pathogenic	15	48808405	48808405	A	T	criteria provided, single submitter	-