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.1361_1371del (p.Gln454fs)	FBN1	Pathogenic	15	48807681	48807691	AGCGGACCAACT	A	criteria provided, single submitter	ClinGen:CA16619974
Duplication	NM_000138.5(FBN1):c.1335dup (p.Pro446fs)	FBN1	Pathogenic	15	48807716	48807717	G	GC	criteria provided, single submitter	ClinGen:CA012078
single nucleotide variant	NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter)	FBN1	Pathogenic	15	48808405	48808405	A	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1297_1300dup (p.Tyr434Ter)	FBN1	Pathogenic	15	48808406	48808407	T	TATTC	criteria provided, single submitter	ClinGen:CA304408
Duplication	NM_000138.5(FBN1):c.1287dup (p.Pro430fs)	FBN1	Pathogenic	15	48808419	48808420	G	GT	criteria provided, single submitter	ClinGen:CA658656495
single nucleotide variant	NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	FBN1	Pathogenic/Likely pathogenic	15	48808422	48808422	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012048
Duplication	NM_000138.5(FBN1):c.1211dup (p.Pro405fs)	FBN1	Pathogenic	15	48808495	48808496	T	TG	criteria provided, single submitter	ClinGen:CA10587856
Deletion	NM_000138.5(FBN1):c.1211del (p.Pro404fs)	FBN1	Pathogenic/Likely pathogenic	15	48808496	48808496	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012028
single nucleotide variant	NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)	FBN1	Pathogenic	15	48808515	48808515	T	A	criteria provided, single submitter	ClinGen:CA012019
Duplication	NM_000138.5(FBN1):c.1191dup (p.Arg398fs)	FBN1	Pathogenic	15	48808515	48808516	T	TC	criteria provided, single submitter	ClinGen:CA10587858