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
Deletion	NC_000015.10:g.(?_48596263)_(48644789_?)del	FBN1	Pathogenic	15	48888460	48936986	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48612990)_(48644789_?)del	FBN1	Pathogenic	15	48905187	48936986	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48508562)_(48644789_?)del	FBN1	Pathogenic	15	48800759	48936986	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1	Pathogenic	15	48703167	48936986	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48596273)_(48644779_?)del	FBN1	Pathogenic	15	48888470	48936976	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1A>T (p.Met1Leu)	FBN1	Pathogenic	15	48936966	48936966	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1A>C (p.Met1Leu)	FBN1	Pathogenic	15	48936966	48936966	T	G	reviewed by expert panel	ClinGen:CA392454066
single nucleotide variant	NM_000138.5(FBN1):c.1A>G (p.Met1Val)	FBN1	Pathogenic	15	48936966	48936966	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012702
single nucleotide variant	NM_000138.5(FBN1):c.2T>C (p.Met1Thr)	FBN1	Likely pathogenic	15	48936965	48936965	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2T>G (p.Met1Arg)	FBN1	Pathogenic	15	48936965	48936965	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603351