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.4490G>A (p.Cys1497Tyr)	FBN1	Pathogenic	15	48760701	48760701	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.4056del (p.Trp1354fs)	FBN1	Pathogenic/Likely pathogenic	15	48766756	48766756	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.3993del (p.His1331fs)	FBN1	Likely pathogenic	15	48766819	48766819	TG	T	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs)	FBN1	Likely pathogenic	15	48773868	48773869	TC	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.3945del (p.Gly1316fs)	FBN1	Likely pathogenic	15	48773871	48773871	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)	FBN1	Pathogenic	15	48777580	48777580	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)	FBN1	Likely pathogenic	15	48777666	48777666	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)	FBN1	Pathogenic/Likely pathogenic	15	48779303	48779303	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)	FBN1	Likely pathogenic	15	48779343	48779343	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)	FBN1	Likely pathogenic	15	48780616	48780616	A	C	criteria provided, multiple submitters, no conflicts	-