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.4172G>A (p.Cys1391Tyr)	FBN1	Pathogenic	15	48766490	48766490	C	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs)	FBN1	Pathogenic	15	48782056	48782057	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2113+1G>C	FBN1	Pathogenic	15	48795983	48795983	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2113+1G>A	FBN1	Pathogenic	15	48795983	48795983	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)	FBN1	Likely pathogenic	15	48796010	48796010	C	A	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)	FBN1	Pathogenic	15	48812992	48812993	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)	FBN1	Pathogenic/Likely pathogenic	15	48829918	48829918	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr)	FBN1	Pathogenic	15	48892392	48892392	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)	FBN1	Pathogenic	15	48713805	48713805	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs)	FBN1	Pathogenic	15	48719936	48719937	T	TAGCACCTCTGTGAAGC	criteria provided, single submitter	-