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.163G>T (p.Gly55Ter)	FBN1	Pathogenic	15	48936804	48936804	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.164+1del	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.164+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012362,OMIM:134797.0013
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>A	FBN1	Likely pathogenic	15	48936801	48936801	A	T	criteria provided, single submitter	ClinGen:CA392453390
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>C	FBN1	Likely pathogenic	15	48936801	48936801	A	G	criteria provided, single submitter	ClinGen:CA012372
Duplication	NC_000015.9:g.(?_48888460)_(48905309_?)dup	FBN1	Likely pathogenic	15	48888460	48905309	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48610708)_(48613112_?)del	FBN1	Pathogenic	15	48902905	48905309	na	na	criteria provided, single submitter	-
Duplication	NC_000015.9:g.(?_48812836)_(48905309_?)dup	FBN1	Likely pathogenic	15	48812836	48905309	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48596273)_(48613102_?)del	FBN1	Pathogenic	15	48888470	48905299	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.165-2A>C	FBN1	Pathogenic	15	48905291	48905291	T	G	criteria provided, single submitter	-