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.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.6948T>A (p.Cys2316Ter)	FBN1	Pathogenic	15	48720592	48720592	A	T	criteria provided, single submitter	ClinGen:CA16614404
single nucleotide variant	NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)	FBN1	Likely pathogenic	15	48726831	48726831	G	C	criteria provided, single submitter	ClinGen:CA16614406
single nucleotide variant	NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter)	FBN1	Pathogenic	15	48729183	48729183	A	T	criteria provided, single submitter	ClinGen:CA16614408
single nucleotide variant	NM_000138.5(FBN1):c.5672-2A>G	FBN1	Pathogenic	15	48739021	48739021	T	C	criteria provided, single submitter	ClinGen:CA16614415
single nucleotide variant	NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)	FBN1	Likely pathogenic	15	48748926	48748926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614417
Deletion	NM_000138.5(FBN1):c.5094del (p.Tyr1699fs)	FBN1	Pathogenic	15	48755409	48755409	AG	A	criteria provided, single submitter	ClinGen:CA16614418
single nucleotide variant	NM_000138.5(FBN1):c.4583-5A>G	FBN1	Likely pathogenic	15	48760304	48760304	T	C	reviewed by expert panel	ClinGen:CA16614422
single nucleotide variant	NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)	FBN1	Likely pathogenic	15	48762923	48762923	C	A	criteria provided, single submitter	ClinGen:CA16614429
Duplication	NM_000138.5(FBN1):c.4145dup (p.Asn1382fs)	FBN1	Pathogenic	15	48766516	48766517	A	AT	criteria provided, single submitter	ClinGen:CA16614431