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.8226+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48704761	48704761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017638
single nucleotide variant	NM_000138.5(FBN1):c.8226+1G>T	FBN1	Pathogenic	15	48704765	48704765	C	A	criteria provided, single submitter	ClinGen:CA017633,OMIM:134797.0066
single nucleotide variant	NM_000138.5(FBN1):c.8226+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48704765	48704765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576035,OMIM:134797.0070
Duplication	NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)	FBN1	Pathogenic	15	48704785	48704786	G	GT	criteria provided, single submitter	ClinGen:CA658798344
Deletion	NM_000138.5(FBN1):c.8203del (p.Glu2735fs)	FBN1	Likely pathogenic	15	48704789	48704789	TC	T	criteria provided, single submitter	ClinGen:CA017613
single nucleotide variant	NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)	FBN1	Pathogenic	15	48704819	48704819	T	A	criteria provided, single submitter	ClinGen:CA392320894
single nucleotide variant	NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)	FBN1	Likely pathogenic	15	48704822	48704822	G	A	criteria provided, single submitter	ClinGen:CA392320926
Duplication	NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)	FBN1	Pathogenic	15	48704837	48704838	T	TA	criteria provided, single submitter	ClinGen:CA304355
single nucleotide variant	NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)	FBN1	Pathogenic	15	48704843	48704843	C	A	criteria provided, single submitter	ClinGen:CA10587785
single nucleotide variant	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	FBN1	Pathogenic/Likely pathogenic	15	48704844	48704844	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353671