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
Duplication	NM_000138.5(FBN1):c.5219_5224+1dup	FBN1	Pathogenic	15	48755277	48755278	A	ACCTGTAC	criteria provided, single submitter	ClinGen:CA16619953
single nucleotide variant	NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp)	FBN1	Pathogenic/Likely pathogenic	15	48755326	48755326	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619954
single nucleotide variant	NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly)	FBN1	Likely pathogenic	15	48757771	48757771	A	C	criteria provided, single submitter	ClinGen:CA16619955
single nucleotide variant	NM_000138.5(FBN1):c.4252G>T (p.Gly1418Cys)	FBN1	Likely pathogenic	15	48764832	48764832	C	A	criteria provided, single submitter	ClinGen:CA16619956
Duplication	NM_000138.5(FBN1):c.4222dup (p.Cys1408fs)	FBN1	Pathogenic	15	48764861	48764862	C	CA	criteria provided, single submitter	ClinGen:CA16619957
single nucleotide variant	NM_000138.5(FBN1):c.3496T>C (p.Cys1166Arg)	FBN1	Likely pathogenic	15	48779365	48779365	A	G	criteria provided, single submitter	ClinGen:CA16619958
Indel	NM_000138.5(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe)	FBN1	Pathogenic	15	48779514	48779522	CACGCGGAG	AACGCGGAC	criteria provided, single submitter	ClinGen:CA16619959
single nucleotide variant	NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val)	FBN1	Likely pathogenic	15	48779592	48779592	C	A	criteria provided, single submitter	ClinGen:CA16619960
single nucleotide variant	NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser)	FBN1	Likely pathogenic	15	48780364	48780364	A	T	criteria provided, single submitter	ClinGen:CA16619961
Deletion	NM_000138.5(FBN1):c.3265del (p.Thr1089fs)	FBN1	Pathogenic	15	48780382	48780382	GT	G	criteria provided, single submitter	ClinGen:CA16619962