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.1421G>A (p.Cys474Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48807631	48807631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012140
Duplication	NM_000138.5(FBN1):c.1297_1300dup (p.Tyr434Ter)	FBN1	Pathogenic	15	48808406	48808407	T	TATTC	criteria provided, single submitter	ClinGen:CA304408
single nucleotide variant	NM_000138.5(FBN1):c.1148-2A>C	FBN1	Pathogenic	15	48808561	48808561	T	G	criteria provided, single submitter	ClinGen:CA011972
single nucleotide variant	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	FBN1	Pathogenic/Likely pathogenic	15	48812913	48812913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011930
Indel	NM_000138.5(FBN1):c.700_702delinsTGT (p.Gly234Cys)	FBN1	Likely pathogenic	15	48829842	48829844	GCC	ACA	criteria provided, single submitter	ClinGen:CA016931
single nucleotide variant	NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	FBN1	Pathogenic/Likely pathogenic	15	48829904	48829904	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016423
single nucleotide variant	NM_000138.5(FBN1):c.539-1G>A	FBN1	Pathogenic	15	48830006	48830006	C	T	criteria provided, single submitter	ClinGen:CA015791
single nucleotide variant	NM_000138.5(FBN1):c.305G>T (p.Cys102Phe)	FBN1	Likely pathogenic	15	48902966	48902966	C	A	criteria provided, single submitter	ClinGen:CA013737
single nucleotide variant	NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48903005	48903005	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013275