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.497G>C (p.Cys166Ser)	FBN1	Likely pathogenic	15	48888521	48888521	C	G	criteria provided, single submitter	ClinGen:CA015519
single nucleotide variant	NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)	FBN1	Likely pathogenic	15	48752488	48752488	G	A	criteria provided, single submitter	ClinGen:CA015718
single nucleotide variant	NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)	FBN1	Likely pathogenic	15	48888489	48888489	A	G	criteria provided, single submitter	ClinGen:CA015756
single nucleotide variant	NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)	FBN1	Likely pathogenic	15	48744792	48744792	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015847
Deletion	NM_000138.5(FBN1):c.561del (p.Phe187fs)	FBN1	Likely pathogenic	15	48829983	48829983	TA	T	criteria provided, single submitter	ClinGen:CA015919
single nucleotide variant	NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)	FBN1	Likely pathogenic	15	48738970	48738970	G	C	criteria provided, single submitter	ClinGen:CA015998
single nucleotide variant	NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)	FBN1	Likely pathogenic	15	48737621	48737621	G	A	criteria provided, single submitter	ClinGen:CA016139
single nucleotide variant	NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)	FBN1	Likely pathogenic	15	48729989	48729989	C	A	criteria provided, single submitter	ClinGen:CA016326
Indel	NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)	FBN1	Likely pathogenic	15	48726891	48726892	AA	C	criteria provided, single submitter	ClinGen:CA016548
Inversion	NM_000138.5(FBN1):c.6617-9_6617-8inv	FBN1	Likely pathogenic	15	48725193	48725194	AG	CT	criteria provided, single submitter	ClinGen:CA282270