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
Duplication	NM_000138.5(FBN1):c.2410dup (p.Thr804fs)	FBN1	Pathogenic	15	48788305	48788306	G	GT	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.2379dup (p.Lys794fs)	FBN1	Pathogenic	15	48788336	48788337	T	TG	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs)	FBN1	Pathogenic	15	48791188	48791206	CCTGCTGACGTCATTCCTGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr)	FBN1	Pathogenic	15	48795984	48795984	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2099del (p.Pro700fs)	FBN1	Pathogenic	15	48795998	48795998	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser)	FBN1	Pathogenic	15	48796044	48796044	A	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1782del (p.Phe594fs)	FBN1	Pathogenic	15	48800834	48800834	TA	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1537dup (p.Cys513fs)	FBN1	Pathogenic	15	48805796	48805797	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser)	FBN1	Pathogenic	15	48805824	48805824	A	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1400dup (p.Thr468fs)	FBN1	Pathogenic	15	48807651	48807652	T	TG	criteria provided, single submitter	-