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.1426T>G (p.Cys476Gly)	FBN1	Pathogenic	15	48807626	48807626	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012151
single nucleotide variant	NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)	FBN1	Likely pathogenic	15	48807626	48807626	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614683
single nucleotide variant	NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48807631	48807631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012140
single nucleotide variant	NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)	FBN1	Pathogenic/Likely pathogenic	15	48807631	48807631	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1420T>C (p.Cys474Arg)	FBN1	Likely pathogenic	15	48807632	48807632	A	G	criteria provided, single submitter	ClinGen:CA392343763
Deletion	NM_000138.5(FBN1):c.1410del (p.Ser471fs)	FBN1	Pathogenic	15	48807642	48807642	TC	T	criteria provided, single submitter	ClinGen:CA658656494
Duplication	NM_000138.5(FBN1):c.1400dup (p.Thr468fs)	FBN1	Pathogenic	15	48807651	48807652	T	TG	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1391del (p.Arg464fs)	FBN1	Pathogenic	15	48807661	48807661	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)	FBN1	Likely pathogenic	15	48807662	48807662	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)	FBN1	Likely pathogenic	15	48807673	48807673	C	T	reviewed by expert panel	-