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.3512G>A (p.Cys1171Tyr)	FBN1	Pathogenic	15	48779349	48779349	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)	FBN1	Pathogenic/Likely pathogenic	15	48779386	48779386	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)	FBN1	Pathogenic	15	48779564	48779574	GGTAACTTCCCT	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.3388del (p.His1130fs)	FBN1	Pathogenic	15	48779584	48779584	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)	FBN1	Pathogenic/Likely pathogenic	15	48779634	48779634	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)	FBN1	Pathogenic/Likely pathogenic	15	48780345	48780345	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)	FBN1	Likely pathogenic	15	48780348	48780348	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)	FBN1	Likely pathogenic	15	48780379	48780379	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)	FBN1	Likely pathogenic	15	48780438	48780438	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)	FBN1	Likely pathogenic	15	48780570	48780570	C	T	criteria provided, single submitter	-