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.3386G>A (p.Cys1129Tyr)	FBN1	Pathogenic	15	48779586	48779586	C	T	criteria provided, single submitter	ClinGen:CA014024,OMIM:134797.0044
single nucleotide variant	NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	FBN1	Pathogenic	15	48807599	48807599	G	A	reviewed by expert panel	ClinGen:CA012160,OMIM:134797.0047
single nucleotide variant	NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)	FBN1	Pathogenic	15	48755407	48755407	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015621,OMIM:134797.0055
single nucleotide variant	NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)	FBN1	Pathogenic	15	48752455	48752455	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015740,OMIM:134797.0056
single nucleotide variant	NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg)	FBN1	Pathogenic	15	48752489	48752489	A	C	criteria provided, single submitter	ClinGen:CA392348049,OMIM:134797.0059
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
Duplication	NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)	FBN1	Likely pathogenic	15	48802277	48802278	C	CCGCATTACA	criteria provided, single submitter	ClinGen:CA012454
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
single nucleotide variant	NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)	FBN1	Pathogenic/Likely pathogenic	15	48802245	48802245	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012495