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.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
Indel	NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)	FBN1	Likely pathogenic	15	48718040	48718049	ATAACCTTGC	TCTGTA	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)	FBN1	Likely pathogenic	15	48718037	48718037	T	G	criteria provided, single submitter	ClinGen:CA017104
Duplication	NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs)	FBN1	Pathogenic	15	48718033	48718034	A	ATCGTG	criteria provided, single submitter	ClinGen:CA16614397
single nucleotide variant	NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)	FBN1	Likely pathogenic	15	48718028	48718028	C	G	criteria provided, single submitter	-