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.7829A>G (p.Glu2610Gly)	FBN1	Likely pathogenic	15	48707955	48707955	T	C	criteria provided, single submitter	ClinGen:CA392323447
single nucleotide variant	NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter)	FBN1	Pathogenic	15	48720558	48720558	G	A	criteria provided, single submitter	ClinGen:CA057638
single nucleotide variant	NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter)	FBN1	Pathogenic	15	48776058	48776058	A	T	criteria provided, single submitter	ClinGen:CA392323784
single nucleotide variant	NM_000138.5(FBN1):c.1074C>A (p.Cys358Ter)	FBN1	Pathogenic	15	48812929	48812929	G	T	criteria provided, single submitter	ClinGen:CA392347567
Duplication	NC_000015.9:g.(?_48812836)_(48905309_?)dup	FBN1	Likely pathogenic	15	48812836	48905309	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)	FBN1	Pathogenic	15	48714187	48714187	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392325908
single nucleotide variant	NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)	FBN1	Likely pathogenic	15	48719834	48719834	G	C	criteria provided, single submitter	ClinGen:CA392329546
single nucleotide variant	NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter)	FBN1	Pathogenic	15	48741046	48741046	G	A	criteria provided, single submitter	ClinGen:CA392342138
Deletion	NM_000138.5(FBN1):c.4965del (p.Gly1656fs)	FBN1	Pathogenic	15	48756196	48756196	CA	C	criteria provided, single submitter	ClinGen:CA658798329
single nucleotide variant	NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)	FBN1	Likely pathogenic	15	48766563	48766563	A	T	criteria provided, single submitter	ClinGen:CA392320359