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.8268G>A (p.Trp2756Ter)	FBN1	Pathogenic	15	48703535	48703535	C	T	criteria provided, single submitter	ClinGen:CA017671,OMIM:134797.0004
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.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.6339T>G (p.Tyr2113Ter)	FBN1	Pathogenic	15	48729559	48729559	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016342,OMIM:134797.0008
single nucleotide variant	NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	FBN1	Pathogenic/Likely pathogenic	15	48729223	48729223	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016451,OMIM:134797.0009
single nucleotide variant	NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)	FBN1	Pathogenic	15	48802312	48802312	T	A	criteria provided, single submitter	ClinGen:CA012380,OMIM:134797.0010
single nucleotide variant	NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)	FBN1	Likely pathogenic	15	48789588	48789588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012833,OMIM:134797.0011
single nucleotide variant	NM_000138.5(FBN1):c.6739+1G>C	FBN1	Likely pathogenic	15	48725062	48725062	C	G	criteria provided, single submitter	ClinGen:CA392333153,OMIM:134797.0014
single nucleotide variant	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Pathogenic/Likely pathogenic	15	48717680	48717680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017155,OMIM:134797.0015
single nucleotide variant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703477	48703477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017692,OMIM:134797.0017