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.1098G>C (p.Trp366Cys)	FBN1	Pathogenic/Likely pathogenic	15	48812905	48812905	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter)	FBN1	Pathogenic	15	48812968	48812968	G	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.916_919del (p.Asn306fs)	FBN1	Pathogenic	15	48818396	48818399	GTGTT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905251	48905251	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000015.10:g.(?_48434584)_(48434723_?)del	FBN1	Pathogenic	15	48726781	48726920	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48444531)_(48444670_?)del	FBN1	Pathogenic	15	48736728	48736867	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48444531)_(48448903_?)del	FBN1	Pathogenic	15	48736728	48741100	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5918-1G>A	FBN1	Pathogenic	15	48736858	48736858	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.165-2A>C	FBN1	Pathogenic	15	48905291	48905291	T	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48596273)_(48644779_?)del	FBN1	Pathogenic	15	48888470	48936976	na	na	criteria provided, single submitter	-