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.5014T>G (p.Cys1672Gly)	FBN1	Pathogenic/Likely pathogenic	15	48756147	48756147	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269548272
Deletion	NM_000138.5(FBN1):c.4607del (p.Leu1536fs)	FBN1	Likely pathogenic	15	48760275	48760275	CA	C	criteria provided, single submitter	ClinGen:CA658683896
single nucleotide variant	NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter)	FBN1	Likely pathogenic	15	48712971	48712971	G	A	criteria provided, single submitter	ClinGen:CA392324780
single nucleotide variant	NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)	FBN1	Pathogenic/Likely pathogenic	15	48737616	48737616	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392340013
Deletion	NM_000138.5(FBN1):c.1088del (p.Gly363fs)	FBN1	Likely pathogenic	15	48812915	48812915	GC	G	criteria provided, single submitter	ClinGen:CA658683888
single nucleotide variant	NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)	FBN1	Pathogenic/Likely pathogenic	15	48779559	48779559	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392326397
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.2237A>G (p.Tyr746Cys)	FBN1	Pathogenic/Likely pathogenic	15	48789519	48789519	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602231
single nucleotide variant	NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)	FBN1	Pathogenic/Likely pathogenic	15	48791218	48791218	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392336329
single nucleotide variant	NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)	FBN1	Likely pathogenic	15	48797294	48797294	T	A	criteria provided, single submitter	ClinGen:CA392339102