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.3725G>A (p.Cys1242Tyr)	FBN1	Pathogenic	15	48776128	48776128	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014498,OMIM:134797.0026
single nucleotide variant	NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)	FBN1	Likely pathogenic	15	48776107	48776107	C	G	criteria provided, single submitter	ClinGen:CA014509,OMIM:134797.0005
single nucleotide variant	NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter)	FBN1	Pathogenic	15	48703535	48703535	C	T	criteria provided, single submitter	ClinGen:CA017671,OMIM:134797.0004