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
Duplication	NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter)	FBN1	Pathogenic	15	48733990	48733991	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)	FBN1	Likely pathogenic	15	48739012	48739012	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr)	FBN1	Pathogenic	15	48741057	48741057	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5571del (p.Asn1858fs)	FBN1	Pathogenic	15	48741065	48741065	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter)	FBN1	Pathogenic	15	48744811	48744811	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)	FBN1	Likely pathogenic	15	48744819	48744819	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr)	FBN1	Pathogenic	15	48744833	48744833	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg)	FBN1	Pathogenic	15	48744870	48744870	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg)	FBN1	Pathogenic	15	48748879	48748879	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.5311dup (p.Arg1771fs)	FBN1	Pathogenic	15	48748944	48748945	C	CG	criteria provided, single submitter	-