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
Deletion	NM_000138.5(FBN1):c.7599del (p.Leu2534fs)	FBN1	Pathogenic	15	48713855	48713855	GA	G	criteria provided, single submitter	ClinGen:CA017276
single nucleotide variant	NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)	FBN1	Likely pathogenic	15	48713877	48713877	T	C	reviewed by expert panel	ClinGen:CA017256
single nucleotide variant	NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)	FBN1	Pathogenic	15	48714188	48714188	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017244
single nucleotide variant	NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48714220	48714220	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017230
single nucleotide variant	NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter)	FBN1	Pathogenic	15	48717999	48717999	C	A	criteria provided, single submitter	ClinGen:CA017147
single nucleotide variant	NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)	FBN1	Likely pathogenic	15	48718013	48718013	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017141
single nucleotide variant	NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)	FBN1	Likely pathogenic	15	48718020	48718020	C	T	criteria provided, single submitter	ClinGen:CA017132
single nucleotide variant	NM_000138.5(FBN1):c.7205-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48718062	48718062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017097
single nucleotide variant	NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg)	FBN1	Likely pathogenic	15	48719836	48719836	A	G	criteria provided, single submitter	ClinGen:CA017030
single nucleotide variant	NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)	FBN1	Pathogenic	15	48719843	48719843	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017025