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.4049G>A (p.Cys1350Tyr)	FBN1	Pathogenic	15	48766763	48766763	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)	FBN1	Pathogenic	15	48766796	48766796	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)	FBN1	Likely pathogenic	15	48766847	48766847	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)	FBN1	Pathogenic	15	48773857	48773857	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)	FBN1	Likely pathogenic	15	48773901	48773901	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)	FBN1	Pathogenic/Likely pathogenic	15	48777627	48777627	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)	FBN1	Likely pathogenic	15	48777649	48777651	CAGA	C	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	FBN1	Pathogenic/Likely pathogenic	15	48779307	48779307	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr)	FBN1	Pathogenic	15	48779322	48779322	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)	FBN1	Likely pathogenic	15	48779328	48779328	T	C	criteria provided, multiple submitters, no conflicts	-