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.7180C>T (p.Arg2394Ter)	FBN1	Pathogenic	15	48719788	48719788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017052
single nucleotide variant	NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)	FBN1	Likely pathogenic	15	48719764	48719764	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7204G>C (p.Asp2402His)	FBN1	Likely pathogenic	15	48719764	48719764	C	G	criteria provided, single submitter	ClinGen:CA16606688
single nucleotide variant	NM_000138.5(FBN1):c.7204+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48719763	48719763	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7204+1G>T	FBN1	Pathogenic	15	48719763	48719763	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.7205-2A>C	FBN1	Likely pathogenic	15	48718063	48718063	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7205-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48718062	48718062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017097
single nucleotide variant	NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe)	FBN1	Likely pathogenic	15	48718049	48718049	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48718049	48718049	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328826
Deletion	NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs)	FBN1	Pathogenic	15	48718041	48718045	ATAACC	A	criteria provided, single submitter	-