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.6871+1G>A	FBN1	Pathogenic	15	48722867	48722867	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5671+1G>T	FBN1	Pathogenic	15	48740964	48740964	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter)	FBN1	Pathogenic	15	48830001	48830001	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	FBN1	Pathogenic/Likely pathogenic	15	48729223	48729223	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016451,OMIM:134797.0009
single nucleotide variant	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Pathogenic/Likely pathogenic	15	48717680	48717680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017155,OMIM:134797.0015
single nucleotide variant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703477	48703477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017692,OMIM:134797.0017
single nucleotide variant	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1	Pathogenic/Likely pathogenic	15	48829826	48829826	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017067,OMIM:134797.0042
single nucleotide variant	NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)	FBN1	Pathogenic/Likely pathogenic	15	48755404	48755404	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015638,OMIM:134797.0060
Deletion	NM_000138.5(FBN1):c.1211del (p.Pro404fs)	FBN1	Pathogenic/Likely pathogenic	15	48808496	48808496	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012028
Deletion	NM_000138.5(FBN1):c.1709del (p.Cys570fs)	FBN1	Pathogenic/Likely pathogenic	15	48802246	48802246	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012482