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.8038C>T (p.Arg2680Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707746	48707746	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017529
single nucleotide variant	NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707779	48707779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017505
single nucleotide variant	NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707868	48707868	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017463
single nucleotide variant	NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707952	48707952	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017404
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.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.6752G>A (p.Cys2251Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48722987	48722987	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016730
single nucleotide variant	NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48725152	48725152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016598
single nucleotide variant	NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg)	FBN1	Pathogenic/Likely pathogenic	15	48725174	48725174	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016575