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
Insertion	NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs)	FBN1	Pathogenic	15	48766808	48766809	T	TTGCCAGAGTTGTG	criteria provided, single submitter	ClinGen:CA658798361
single nucleotide variant	NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter)	FBN1	Pathogenic	15	48776075	48776075	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392323887
single nucleotide variant	NM_000138.5(FBN1):c.3337+1G>T	FBN1	Pathogenic	15	48780309	48780309	C	A	criteria provided, single submitter	ClinGen:CA392326962
Duplication	NM_000138.5(FBN1):c.2857dup (p.Ile953fs)	FBN1	Pathogenic	15	48782272	48782273	A	AT	criteria provided, single submitter	ClinGen:CA658798375
single nucleotide variant	NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)	FBN1	Likely pathogenic	15	48789498	48789498	C	T	criteria provided, single submitter	ClinGen:CA392335654
single nucleotide variant	NM_000138.5(FBN1):c.1837+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48800774	48800774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA617839729
single nucleotide variant	NM_000138.5(FBN1):c.1589-1G>A	FBN1	Pathogenic	15	48802367	48802367	C	T	criteria provided, single submitter	ClinGen:CA392341424
Deletion	NM_000138.5(FBN1):c.441del (p.Gln147fs)	FBN1	Pathogenic/Likely pathogenic	15	48892337	48892337	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798360
single nucleotide variant	NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)	FBN1	Likely pathogenic	15	48784775	48784775	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.442+1G>A	FBN1	Likely pathogenic	15	48892335	48892335	C	T	criteria provided, multiple submitters, no conflicts	-