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.3794G>C (p.Cys1265Ser)	FBN1	Likely pathogenic	15	48776059	48776059	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392323789
single nucleotide variant	NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)	FBN1	Likely pathogenic	15	48777667	48777667	C	G	criteria provided, single submitter	ClinGen:CA392324626
Deletion	NM_000138.5(FBN1):c.3061_3082+172del	FBN1	Pathogenic	15	48781876	48782069	GGACCAAACAGTTAAAAACAAAAAGTTCATACTTTTCTAAACAAAGATAATTATATAATTCAGAAAGCAAAAAGTCCATGCTGGGATGATCAAGTAGAGTGCTGAGATCATGAAAATGCATCCTATTTGTCTAAAAAGGGAGGCAATTGGCCATGGAAAACGTAACATTGTACCTTTGAAGAAAGGCTTTCCATT	G	criteria provided, single submitter	ClinGen:CA658656493
Deletion	NM_000138.5(FBN1):c.1410del (p.Ser471fs)	FBN1	Pathogenic	15	48807642	48807642	TC	T	criteria provided, single submitter	ClinGen:CA658656494
single nucleotide variant	NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)	FBN1	Likely pathogenic	15	48812924	48812924	C	T	criteria provided, single submitter	ClinGen:CA392347507
single nucleotide variant	NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)	FBN1	Pathogenic	15	48729573	48729573	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392336847
single nucleotide variant	NM_000138.5(FBN1):c.3G>A (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392454056
single nucleotide variant	NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	FBN1	Pathogenic	15	48725140	48725140	C	T	criteria provided, single submitter	ClinGen:CA392333555
single nucleotide variant	NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)	FBN1	Likely pathogenic	15	48779348	48779348	G	C	criteria provided, single submitter	ClinGen:CA392325180
single nucleotide variant	NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)	FBN1	Pathogenic/Likely pathogenic	15	48789508	48789508	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335678