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
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.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	-
single nucleotide variant	NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)	FBN1	Pathogenic	15	48718026	48718026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269520797
single nucleotide variant	NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)	FBN1	Likely pathogenic	15	48718020	48718020	C	T	criteria provided, single submitter	ClinGen:CA017132
Duplication	NM_000138.5(FBN1):c.7251dup (p.Cys2418fs)	FBN1	Pathogenic	15	48718014	48718015	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)	FBN1	Likely pathogenic	15	48718013	48718013	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017141
Deletion	NM_000138.5(FBN1):c.7259del (p.Asn2420fs)	FBN1	Likely pathogenic	15	48718007	48718007	AT	A	criteria provided, single submitter	ClinGen:CA353638
single nucleotide variant	NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)	FBN1	Pathogenic	15	48717999	48717999	C	A	criteria provided, single submitter	ClinGen:CA017147