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.165-2A>C	FBN1	Pathogenic	15	48905291	48905291	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	FBN1	Pathogenic	15	48905270	48905270	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012607
single nucleotide variant	NM_000138.5(FBN1):c.202T>A (p.Cys68Ser)	FBN1	Likely pathogenic	15	48905252	48905252	A	T	criteria provided, single submitter	ClinGen:CA392448434
single nucleotide variant	NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905251	48905251	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)	FBN1	Pathogenic	15	48905243	48905243	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.212G>C (p.Trp71Ser)	FBN1	Pathogenic	15	48905242	48905242	C	G	criteria provided, single submitter	ClinGen:CA012802
Deletion	NM_000138.5(FBN1):c.225del (p.Gly76fs)	FBN1	Pathogenic	15	48905229	48905229	CA	C	criteria provided, single submitter	ClinGen:CA012902
Duplication	NM_000138.5(FBN1):c.236dup (p.Cys80fs)	FBN1	Pathogenic	15	48905217	48905218	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)	FBN1	Likely pathogenic	15	48905216	48905216	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905215	48905215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012984