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.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
single nucleotide variant	NM_000138.5(FBN1):c.3G>A (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392454056
single nucleotide variant	NM_000138.5(FBN1):c.3G>T (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587866
single nucleotide variant	NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)	FBN1	Pathogenic	15	48936960	48936960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587869
single nucleotide variant	NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)	FBN1	Likely pathogenic	15	48936935	48936935	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.32_42del (p.Leu11fs)	FBN1	Likely pathogenic	15	48936925	48936935	CGGTAAATCCCA	C	criteria provided, single submitter	ClinGen:CA013699