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.6354C>G (p.Ile2118Met)	FBN1	Likely pathogenic	15	48729544	48729544	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016350
Deletion	NM_000138.5(FBN1):c.5888del (p.Glu1963fs)	FBN1	Likely pathogenic	15	48737602	48737602	CT	C	criteria provided, single submitter	ClinGen:CA016147
Deletion	NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)	FBN1	Likely pathogenic	15	48760164	48760207	AGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT	A	criteria provided, single submitter	ClinGen:CA015290
single nucleotide variant	NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)	FBN1	Pathogenic	15	48779315	48779315	G	T	criteria provided, single submitter	ClinGen:CA014263
single nucleotide variant	NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	FBN1	Pathogenic/Likely pathogenic	15	48782093	48782093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013681
single nucleotide variant	NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	FBN1	Pathogenic	15	48797303	48797303	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012647
Deletion	NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)	FBN1	Likely pathogenic	15	48703328	48703330	TTCC	T	criteria provided, single submitter	ClinGen:CA017763
single nucleotide variant	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1	Pathogenic	15	48704912	48704912	G	A	reviewed by expert panel	ClinGen:CA017544
single nucleotide variant	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	FBN1	Pathogenic	15	48714179	48714179	C	T	reviewed by expert panel	ClinGen:CA017250
single nucleotide variant	NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)	FBN1	Pathogenic	15	48720654	48720654	G	A	criteria provided, single submitter	ClinGen:CA016813