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
Deletion	NM_000138.5(FBN1):c.2712_2716del (p.Lys904fs)	FBN1	Pathogenic	15	48786413	48786417	GTTCCT	G	criteria provided, single submitter	ClinGen:CA013383
Deletion	NM_000138.5(FBN1):c.2701del (p.Ser901fs)	FBN1	Pathogenic	15	48786428	48786428	GA	G	criteria provided, single submitter	ClinGen:CA013372
single nucleotide variant	NM_000138.5(FBN1):c.2671C>T (p.Gln891Ter)	FBN1	Pathogenic	15	48787326	48787326	G	A	criteria provided, single submitter	ClinGen:CA013292
single nucleotide variant	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1	Pathogenic/Likely pathogenic	15	48787352	48787352	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013258
single nucleotide variant	NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)	FBN1	Pathogenic/Likely pathogenic	15	48787359	48787359	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013249
single nucleotide variant	NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48787370	48787370	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013240
Duplication	NM_000138.5(FBN1):c.2601dup (p.Gly868fs)	FBN1	Pathogenic	15	48787395	48787396	C	CA	criteria provided, single submitter	ClinGen:CA304345
Deletion	NM_000138.5(FBN1):c.2569_2570del (p.Val857fs)	FBN1	Pathogenic	15	48787427	48787428	GAC	G	criteria provided, single submitter	ClinGen:CA013212
single nucleotide variant	NM_000138.5(FBN1):c.2539+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48787665	48787665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013192
single nucleotide variant	NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48788410	48788410	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012956