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.5720A>G (p.Asn1907Ser)	FBN1	Likely pathogenic	15	48738971	48738971	T	C	criteria provided, single submitter	ClinGen:CA16614507
single nucleotide variant	NM_000138.5(FBN1):c.5672-87A>G	FBN1	Likely pathogenic	15	48739106	48739106	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614509
single nucleotide variant	NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48760659	48760659	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614510
Deletion	NM_000138.5(FBN1):c.3893del (p.Asn1298fs)	FBN1	Pathogenic	15	48773923	48773923	GT	G	criteria provided, single submitter	ClinGen:CA16614514
single nucleotide variant	NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)	FBN1	Likely pathogenic	15	48779553	48779553	C	T	criteria provided, single submitter	ClinGen:CA16614520
Deletion	NM_000138.5(FBN1):c.3166del (p.Asp1056fs)	FBN1	Pathogenic	15	48780607	48780607	TC	T	criteria provided, single submitter	ClinGen:CA16614521
single nucleotide variant	NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter)	FBN1	Pathogenic/Likely pathogenic	15	48780608	48780608	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614522
single nucleotide variant	NM_000138.5(FBN1):c.2420-2A>G	FBN1	Likely pathogenic	15	48787787	48787787	T	C	criteria provided, single submitter	ClinGen:CA16614523
single nucleotide variant	NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser)	FBN1	Pathogenic	15	48797267	48797267	A	T	criteria provided, single submitter	ClinGen:CA16614529
single nucleotide variant	NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr)	FBN1	Pathogenic	15	48725107	48725107	C	T	criteria provided, single submitter	ClinGen:CA16614626