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.247+1G>T	FBN1	Likely pathogenic	15	48905206	48905206	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.247+1G>A	FBN1	Pathogenic	15	48905206	48905206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013099,OMIM:134797.0035
single nucleotide variant	NM_000138.5(FBN1):c.247+3A>C	FBN1	Likely pathogenic	15	48905204	48905204	T	G	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.247+2dup	FBN1	Likely pathogenic	15	48905204	48905205	T	TA	criteria provided, single submitter	ClinGen:CA013108
Deletion	NC_000015.10:g.(?_48612990)_(48644789_?)del	FBN1	Pathogenic	15	48905187	48936986	na	na	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs)	FBN1	Pathogenic	15	48903011	48903013	TGC	AG	criteria provided, single submitter	ClinGen:CA658798368
single nucleotide variant	NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48903005	48903005	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013275
single nucleotide variant	NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)	FBN1	Likely pathogenic	15	48903005	48903005	C	G	criteria provided, single submitter	ClinGen:CA013283
Indel	NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)	FBN1	Likely pathogenic	15	48903002	48903003	CC	G	criteria provided, single submitter	ClinGen:CA013333
single nucleotide variant	NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)	FBN1	Likely pathogenic	15	48902972	48902972	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576993