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.433T>C (p.Cys145Arg)	FBN1	Likely pathogenic	15	48892345	48892345	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446450
single nucleotide variant	NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48892344	48892344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583255
single nucleotide variant	NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)	FBN1	Pathogenic	15	48892339	48892339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587865
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.442+1G>A	FBN1	Likely pathogenic	15	48892335	48892335	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.443-1G>A	FBN1	Pathogenic	15	48888576	48888576	C	T	criteria provided, single submitter	ClinGen:CA392446422
single nucleotide variant	NM_000138.5(FBN1):c.448T>C (p.Cys150Arg)	FBN1	Likely pathogenic	15	48888570	48888570	A	G	criteria provided, single submitter	ClinGen:CA392446408
single nucleotide variant	NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)	FBN1	Likely pathogenic	15	48888564	48888564	T	A	criteria provided, single submitter	ClinGen:CA015186
single nucleotide variant	NM_000138.5(FBN1):c.461G>C (p.Cys154Ser)	FBN1	Likely pathogenic	15	48888557	48888557	C	G	criteria provided, single submitter	ClinGen:CA16607111
Deletion	NM_000138.5(FBN1):c.466_469del (p.Asn156fs)	FBN1	Pathogenic	15	48888549	48888552	CCATT	C	criteria provided, single submitter	ClinGen:CA645293894