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.6801C>A (p.Asn2267Lys)	FBN1	Likely pathogenic	15	48722938	48722938	G	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)	FBN1	Pathogenic	15	48722952	48722953	ATT	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)	FBN1	Pathogenic	15	48722965	48722966	TAC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6740-2del	FBN1	Pathogenic/Likely pathogenic	15	48723001	48723001	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter)	FBN1	Pathogenic	15	48726824	48726824	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6496+1G>A	FBN1	Pathogenic	15	48729157	48729157	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6414del (p.Lys2138fs)	FBN1	Pathogenic	15	48729240	48729240	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)	FBN1	Likely pathogenic	15	48729567	48729567	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)	FBN1	Likely pathogenic	15	48729576	48729576	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)	FBN1	Likely pathogenic	15	48730042	48730042	G	C	criteria provided, single submitter	-